Amyloidosis cutis dyschromica (ACD) is an extremely rare type of primary cutaneous amyloidosis. To date there are fewer than 40 published cases worldwide; some were reported affecting several family members. Its resemblance to other common pigmentation disorders makes it rarely recognized at first sight. Our patient, the 12-year-old firstborn son of non-consanguineous parents presented with generalized mottled pigmentation starting from lower extremities. His siblings suffered from similar condition. The clue for diagnosis is the amyloid deposition in the papillary dermis. The etiology of ACD is still unknown, but genetic factors and ultraviolet radiation are implicated. It is proposed that disturbance of keratinocyte repair following ultraviolet radiation results in amyloid deposition. The treatment remains a challenge. Oral acitretin treatment, thought to repair keratinization defect, gave a slight improvement in our case. Our is the first case of ACD reported in Indonesia.
amyloidosis cutis dyschromica; familial; histopathology; acitretin
Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.
The purpose of this study was to improve the clinical and histopathological data for this variant of amyloidosis and to highlight the immunohistochemical features of the disease. The published cases were also reviewed.
We performed a retrospective review of patients with amyloidosis cutis dyschromica in a single centre. The clinical, histopathological and immunohistochemical features were documented and analysed.
We described 10 cases of amyloidosis cutis dyschromica. Six of them were female. Five patients were from the same family, and the other 5 were sporadic. The distinguishing features of the clinical presentation included generalised mottled hyper- and hypopigmented macules, which were asymptomatic or mild pruritic. The typical onset of the lesions occurred in childhood (n = 7) and occasionally after puberty (n = 3). No evidence of systemic amyloidosis deposition was observed in these cases of amyloidosis cutis dyschromica. Amyloid deposits were observed in the papillary dermis and were positive for the Congo red stain. An immunohistochemical study showed that the amyloid expresses cytokeratins CK34βE12 and CK5/6.
We described the largest series of amyloidosis cutis dyschromica to date and reviewed the published patients. This rare disease is featured by generalised mottled hyper- and hypopigmented lesions, and it is a rare variant of primary cutaneous amyloidosis without evidence of systemic amyloid deposition. Positive staining for the cytokeratins CK34βE12 and CK5/6 in amyloidosis cutis dyschromica suggests that the amyloid is derived from keratinocytes.
Amyloidosis cutis dyschromica; Amyloid; Pigmentation disorder; Cytokeratin; Congo red; Hereditary disease
Amyloidosis cutis dyschromica is a very rare form of primary cutaneous amyloidosis characterized by prepubertal onset of hyper and hypopigmented spots and amyloid deposits in the papillary dermis. We report a case of a 26 year old female with amyloidosis cutis dyschromica who presented with dyschromic skin since birth.
Amyloidosis; dyschromica; genetic
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds,
polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary
lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa
stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was
made by the presence of amyloid material in the eyelid using histopathological
techniques, besides this, the patient was also diagnosed with purpura,
polyneuropathy, bilateral carpal tunnel syndrome and monoclonal gammopathy. She was
diagnosed as suffering from multiple myeloma based on the finding of 40% plasma cells
in the bone marrow, component M in the urine and anemia. The patient developed
blisters with a clear content, confirmed as mucinosis by the histopathological exam.
The final diagnoses were: primary systemic amyloidosis, acquired cutis laxa and
mucinosis, all related to multiple myeloma.
Amyloidosis; Cutis laxa; Mucinoses; Multiple myeloma
Cutis marmorata telangiectatica congenita (CMTC) is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. We herewith report a 20-year-old female patient with CMTC since childhood along with ulcerations on both breasts. CMTC is a benign vascular anomaly presenting with dilatation of capillaries and veins of dermis and is apparent at birth. The patient had reticulated bluish-purple skin changes over both breasts. Although it resembled physiological cutis marmorata, it was more pronounced and definitely was unvarying and permanent in pattern. A variety of vascular malformations have been described along with this disorder. Etiology is not very clear; it may be multifactorial in origin. Prognosis in uncomplicated cases is good.
cutis marmorata; breast; ulceration; Von Lohuizen
In the present study, calcinosis cutis (CC) is defined as the deposition of amorphous calcium and phosphate salts under epidermis and it may be caused by a pre-existing event such as extravasation injury or hypercalcemic conditions. Idiopathic CC cases have no underlying disease or pre-existing cause.
A demostrative vulvar idiopathic CC case presentation and review of the related literature.
A 42-year-old multiparous female presented with vulvar nodular masses. She was keen on surgical removal of the lesions, as the masses caused dyscomfort during sexual intercourse. The lesions were removed and sent for histopathological examination. There was neither a history of trauma nor any inflammatory process in the vulvar skin prior to the development of lesions and no systemic abnormality was detected.
Results and Conclusions:
The histhopathologic evaluation of the biopsy specimen showed amorphous calcium deposits without any inflammatory infiltration in the dermis. There was no recurrence at 1 year's follow-up. This case shows that idiopathic CC may develop slowly at labio-vulvar region in a sexually active female with normal systemic or laboratory findings
Idiopathic calcinosis cutis; vulva; subepidermal nodules
Idiopathic calcinosis cutis is a condition involving the deposition of calcium salts in the skin and subcutaneous tissue. The disease is a pathological condition of unknown origin and hence is idiopathic. The salt deposition is confined to areas such as the breast and vulva in females and scrotum and penis in males. Diffuse calcification with multiple complications in an adult is a rare entity. Only one such case has been reported in literature. A 59-year-old female presented to us with swelling of the right elbow, multiple calcific nodular lesions all over her fingers approximately 0.5x0.5 cm in size, and ulcers on her left great toe and right thumb with pain for the past two months. The ulcers were 2x2 cm and were observed to be healing without active discharge or signs of inflammation. The elbow was diffusely swollen and tender. Flexion deformity was present at the elbow. X-ray of hand and feet revealed calcinosis of the elbow and interphalangeal joints of the foot and hand. Blood tests revealed elevated C-reactive protein levels of 24 mg/dL, elevated Erythrocyte Sedimentation Rate (ESR) of 52 mm/hr., serum calcium of 9.7 mg/dL and a serum phosphorous of 5 mg/dL. Cultures from the foot ulcer were positive for methicillin-resistant staphylococcus aureus (MRSA). Workup for collagen vascular disease was negative. Histopathology confirmed calcinosis cutis. Treatment involved a conservative approach, including physiotherapy for the flexion deformity, antibiotics for MRSA, analgesics for pain relief and daily dressings. This case demonstrates that if a patient presents with multiple chalky nodular lesions with or without ulceration, pain and discharge involving areas of the upper limb or lower limb, diagnosis of idiopathic calcinosis cutis could be considered as a differential, despite its common confinement to the scrotum, breast, vulva and penis.
Calcinosis cutis; idiopathic; diffuse; adult
Systemic AA amyloidosis is a long-term complication of several chronic inflammatory disorders. Organ damage results from the extracellular deposition of proteolytic fragments of the acute-phase reactant serum amyloid A (SAA) as amyloid fibrils. Drug users that inject drug by a subcutaneous route (“skin popping”) have a higher chance of developing secondary amyloidosis. The kidneys, liver,
and spleen are the main target organs of AA amyloid deposits. More than 90% of patients with renal amyloidosis will present with proteinuria, nephrotic syndrome, or renal function.
Case presentation: A 37 year-old female presented to the hospital with a one-week history of pain and redness in her right axilla. Her relevant medical history included multiple skin abscesses secondary to “skin popping”, heroin abuse for 18 years, and hepatitis C. The physical examination revealed “skin popping” lesions, bilateral costovertebral angle tenderness, and bilateral knee swelling. The laboratory workup was significant for renal insufficiency with a serum creatinine of 5 mg/dL and 14.8 grams of urine protein per 1 gram of urine creatinine. The renal biopsy findings were consistent with a diagnosis of renal amyloidosis due to serum amyloid A deposition and acute tubulointerstitial nephritis.
Conclusions: AA renal amyloidosis among heroin addicts seems to be associated with chronic suppurative skin infection secondary to “skin popping”. It is postulated that the chronic immunologic stimulation by one or more exogenous antigens or multiple acute inflammatory episodes is an important factor in the pathogenesis of amyloidosis in these patients. Therefore, AA renal amyloidosis should always be considered in chronic heroin users presenting with proteinuria and renal impairment.
Renal amyloidosis; Acute tubulointerstitial nephritis; Heroin; Skin popping
An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 years old patient with various other cogenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest the combination of hyper- and hypopigmented cutaneous lesions is an example of allelic twin spotting. Because the skin of this patient showed three different degrees of pigmentation the term "cutis tricolor" is proposed.
Amyloidosis most often manifests as a systemic involvement of multiple tissues and organs, and an amyloidal deposit confined to the stomach is extremely rare. It is sometimes difficult to provide a definitive diagnosis of localized gastric amyloidosis by biopsy specimen and diagnosis of amyloidosis in some cases has been finalized only after surgical resection of the stomach.
A 76-year-old Japanese woman with epigastric discomfort underwent an esophagogastroduodenoscopy procedure. The esophagogastroduodenoscopy revealed gastric wall thickening, suggesting scirrhous gastric carcinoma, at the greater curvature from the upper to the lower part of the gastric corpus. A biopsy specimen revealed amyloid deposits in the submucosal layer with no malignant findings. We resected a representative portion of the lesion by endoscopic mucosal resection using the strip biopsy method to obtain sufficient tissue specimens, and then conducted a detailed histological evaluation of the samples. The resected specimens revealed deposition of amyloidal materials in the gastric mucosa and submucosa without any malignant findings. Congo red staining results were positive for amyloidal protein and exhibited green birefringence under polarized light. Congo red staining with prior potassium permanganate incubation confirmed the light chain (AL) amyloid protein type. Based on these results, gastric malignancy, systemic amyloidosis and amyloid deposits induced by inflammatory disease were excluded and this lesion was consequently diagnosed as localized gastric amyloidosis. Our patient was an older woman and there were no findings relative to an increase in gastrointestinal symptoms or anemia, so no further treatment was performed. She continued to be in good condition without any finding of disease progression six years after verification of our diagnosis.
We report an unusual case of primary amyloidosis of the stomach resembling scirrhous gastric carcinoma. This case of localized gastric amyloidosis was differentiated from scirrhous gastric cancer after performing endoscopic mucosal resection without an invasive surgical resection, as endoscopic mucosal resection provided sufficient tissue specimens from the lesion to make an accurate histological evaluation.
Endoscopic mucosal resection (EMR); Localized gastric amyloidosis; Scirrhous gastric cancer
Leukemia cutis is the term used for cutaneous manifestations of leukemia, which can have varied clinical presentations. A skin biopsy can help in diagnosing such condition and differentiating it from other skin diseases. We present a case where a 45 years old man presented with diffuse papulovesicular skin lesions mimicking dessiminated herpes. Further workup revealed patient having acute myeloid leukemia (AML-M2) and skin biopsy showed infiltration by myeloblasts. With chemotherapy patient went into remission and skin lesions healed.
Acute myeloid leukemia; Leukemia cutis; Myeloperoxidase
Background: The diagnosis of systemic amyloidosis is determined through histological material from biopsy of different parenchymal organs, which have high diagnostic and informative value, but hide a high risk of bleeding because of the accumulation of amyloid in the vessels' wall. The main methods are kidney, liver, gastro–intestinal tract biopsy and aspiration of subcutaneous fatty tissue. The sensitivity of trans–dermal core kidney biopsy (KB) is close to 100%. The rectal biopsy is positive in 73% of cases, the biopsy of bone marrow in bout 50% and the one of gingival mucosa in 40–46 % of cases. The biopsy of subcutaneous fatty tissue (BSFT) is a new, highly sensitive method with sensitivity 73% and specificity 90%, so that it can be used as a screening test in patients without any clinical symptom or organ dysfunction.
Patients and Methods: One hundred fifteen patients, 59 male and 56 female with an average age 49.7±15.93 years were included in the study divided in two groups. The first group consisted of patients with kidney biopsy proved amyloidosis compared to biopsy findings from other parenchymal organs. The second group consisted of patients suspected having amyloidosis who underwent biopsies from various tissues or organs except kidney biopsy because there was contraindication.
Results: One hundred fifteen biopsies of subcutaneous fatty tissue (SFT) were performed for the diagnosis of systemic amyloidosis. In order to compare the data from the BSFT to the other known and practiced till the moment methods BSFT was performed in 54 patients with proved amyloidosis by KB. In 51/54 the positive result for amyloid was confirmed. A comparison of the data in a sample of 20 patients, 11 female and 9 male, in 18/20 patients the result from BSFT is positive (90%). In coloring with Congo red are typed with KMnO4 19/54 patients, 12 female and 7 male, with average age 48.12 (SD ±13.21). In 14/19 the amyloidosis was typed as AA (74.2%) and 5/19 non – AA, probably AL (25.8%). To reveal the meaning of so called screening–biopsy of subcutaneous fatty tissue for excluding accompanying amyloidosis in patients with significant proteinuria and/or uremia, dysglobulinemia, laboratory constellations for nephritic syndrome in immune nephropathies and chronic infections (Chronic Obstructive Lung Disease, purulent infections) with contraindications for kidney biopsy 61 screening BSFT were performed, accumulation of amyloid was defined in 37. In all of the patients the result was verified also by biopsies of rectal, gingival and stomach mucosa.
Conclusion: The purposeful searching and proving of amyloid in subcutaneous fatty tissue of the abdominal wall is a new, highly sensitive method. The receiving of richer material from SFT in the method "biopsy" in stead of "aspiration", makes it more reliable for proving amyloid in the case that it exists. The method is enough informative for proving not only amyloidosis AL, but also for amyloidosis AA, in treating with KMnO4.
The biopsy of SFT in combination with biopsies from other mucosa can prove the accumulation of amyloid in contraindications for performing KB.
systemic amyloidosis; histological diagnosis; aspiration of subcutaneous fatty tissue; biopsy of subcutaneous fatty tissue
Cutaneous leiomyomas are benign smooth muscle tumors that comprise three distinct types such as piloleimyoma, angioleiomyoma, and genital leiomyoma.
The objective of this study was to report a series of cases seen in last 8 years in a tertiary care hospital in north India and to discuss their clinicopathologic findings.
Material and Methods:
Paraffin-embedded blocks of cases reported as cutaneous leiomyoma from 1999 to 2007 were retrieved from the Institute of Pathology, New Delhi, and their clinical parameters were noted. Their histopathological features were reviewed on hematoxylin-eosin stained slides. Immunohistochemistry was performed where necessary.
Twenty-seven cases of piloleiomyoma, three cases of angioleiomyoma, five breast leiomyomas, and two scrotal leiomyomas were seen in patients ranging from 21 to 65 years of age, with an average of 38.2 years at presentation. There was a male predominance with 26 males and 11 females (M:F = 2.2:1). Solitary lesions (n = 21) were more common than multiple ( n = 16). The trunk and upper limbs were involved most commonly, comprising 23 of 37 (62.2%) cases. This was followed by lower limb, face, breast, and scrotum.
Cutaneous leiomyomas are rare lesions and form an important clinical differential diagnosis of painful papulonodules. These must be biopsied in order to differentiate them from other spindle cell lesions.
Piloleiomyoma; cutaneous leiomyoma; angioleiomyoma; genital leiomyoma
Acral angioosteoma cutis is a rare disease first described in 2006 that is characterized by vascular proliferation with ossification at the acral area, and which bears clinical similarity to pyogenic granuloma. However, there is no lobular pattern in the capillary proliferation that is a typical histopathological feature in pyogenic granuloma. Metaplastic cutaneous ossification is associated with multiple skin diseases and inflammatory conditions such as scars, nevi, basal cell carcinomas, pilomatricomas, chondroid syringomas, and venous stasis. It is rarely associated with vascular proliferation diseases like hemangiomas and pyogenic granulomas. We report a case of capillary proliferation with ectopic bone formation in a 43-year-old female who presented with an ulcerative, dome-shaped subungual nodule on the left fourth toe, which appeared to be a pyogenic granuloma. Because the biopsy findings showed no lobular capillary proliferation, we determined that this case was consistent with acral angioosteoma cutis.
Acral angioosteoma cutis; Pyogenic granuloma
A 55-year-old man presented with multiple, itchy papules and macules on the trunk and extremities. Histopathologic examination of biopsy specimens taken from three different lesions showed a subepidermal blister with amyloid deposits in the dermal papillae. No systemic disease or involvement of other organs was detected. The clinical and histological findings were compatible with a bullous variant of lichen amyloidosis (LA). Primary cutaneous localized amyloidosis usually presents with papular, macular or nodular lesions. Bullous lesions associated with LA are very rare. Furthermore, patient had seven other members in the family with similar lesions, which is also a rare occurrence. We report a case with a rare combination of biphasic, bullous variant of familial LA.
Biphasic; bullous lesion; familial; lichen amyloidosis; subepidermal bulla
A 61-year-old female received intravenous injection of calcium chloride after common iliac artery bypass surgery. A red flare appeared at the site of the intravenous infusion on the left forearm and gradually progressed to induration. Seven weeks later, she was referred to the Department of Dermatology for management. Physical examination showed an indurated plaque measuring 13 × 65 mm in size, with linearly distributed ulcers covered by yellowish-white substance, surrounded by reddish skin. Laboratory tests showed no significant abnormalities including serum calcium, phosphate and thyroid hormones. Cultures were negative for microorganisms. Histopathological examination showed calcium deposition confined to the dermis. The lesion healed spontaneously within 2 months with scar formation. A review of the Japanese literature showed confinement of calcium deposits to the dermis in most of the reported cases. We speculate that the pathomechanism of dermal calcinosis includes needle-induced tissue injury with capillary destruction, leading to release of excess calcium between collagen fibers, and its binding to phosphate in the dermis and deposition as calcium phosphate crystals.
Iatrogenic calcinosis; Calcium chloride
Primary localized cutaneous nodular amyloidosis (nodular amyloidosis) is a rare and distinct type of amyloidosis, in which amyloid L deposition is limited to the skin and typically manifested as a tumefactive nodule on the acral sites. However, the definite cause of nodular amyloidosis is still unknown. Although it is relatively well known that the amyloid deposits in nodular amyloidosis originate from immunoglobulin light chains secreted by local plasma cells, traumatic injury to the skin has rarely been recognized as a triggering factor of nodular amyloidosis. Herein, we present a case of a 50-year-old male patient with primary localized cutaneous nodular amyloidosis, which occurred after local trauma, and discuss the relationship between traumatic damage and dermal amyloid L deposition.
Primary localized cutaneous nodular amyloidosis; Trauma
A 46-year-old man presented with a two-week history of fatigue, fevers, and multiple nonhealing ulcers on his abdomen and back. He also had several dermatomal plaques clinically consistent with multifocal herpes zoster. Biopsy revealed large atypical myeloid cells dissecting through the dermis as well as marked papillary edema reminiscent of Sweet's syndrome. Blood work revealed an elevated white count (35-109 cells/L) with 11 percent blasts. Fluorescence in situ hybridization demonstrated a t(15;17) rearrangement diagnostic of M3 acute nonlymphocytic leukemia/acute promyelocytic leukemia. Chemotherapy was initiated, but the patient became septic and expired within two weeks. Acute promyelocytic leukemia cutis is exceedingly rare with only 24 previously reported cases, all of which occurred following treatment with all-trans retinoic acid, which is thought to induce the dermal tropism. The authors believe this is the first reported case of acute promyelocytic leukemia initially presenting with cutaneous involvement. The case is also notable for the Sweet's-like features of the infiltrate.
Calcinosis cutis is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin in various parts of the body. Four main types of calcinosis cutis have been recognized according to etiology: associated with localized or widespread tissue changes or damage (dystrophic calcification), that associated with an abnormal calcium and phosphorus metabolism (metastatic calcification), not associated with any tissue damage or demonstrable metabolic disorder (idiopathic calcification), and Iatrogenic. Very few cases of idiopathic calcinosis cutis are reported in early childhood in the literature. We report one such case of idiopathic calcinosis cutis over elbow in a 12-year-old female child. Histological examinations of the lesions resected in this case reveal calcium deposits in the dermis, surrounded by foreign body giant cells. Idiopathic calcinosis cutis is a rare phenomenon and occurs in the absence of known tissue injury or systemic metabolic defect. It is important to delineate it from other calcification disorders for further plan of management. Medical therapy in calcinosis cutis is of limited benefit in pediatric age group and poses a challenging problem of postsurgical management.
Two major types of amyloidosis are primary amyloidosis or amyloid light chain amyloidosis and secondary amyloidosis. Although amyloidosis involves a variety of organ systems including skin, the occurrence of bullous skin lesions is rare. Little is known about the mechanism of blister formation. These blisters are often hemorrhagic and typically occur in the oral mucosa. Only a few case reports have described skin involvement in systemic amyloidosis. The manifestation of bullous lesions on the breast in association with primary amyloidosis has not been previously reported. Therefore, we report a case of cutaneous hemorrhagic bullous of the breast secondary to primary systemic amyloidosis, which may be important for medical oncologists to be aware of this uncommon presentation of plasma cell dysrasias. Furthermore, this case only partially responded to the commonly used multiple myeloma-type regimen, the skin lesions responded completely to a five-drug combination chemotherapy regimen, utilizing immunomodulators, liposomal doxorubicin, cyclophosphamide, bortezomib, and dexamethasone, suggesting that a more aggressive modality of chemotherapy may be necessary to treat such cases.
There are two major forms of amyloidosis, primary amyloidosis (AL) and secondary amyloidosis. AL amyloidosis results from deposition of immunoglobulin light chains or their fragments. One such example is AL amyloidosis associated with multiple myeloma, in which overproduced immunoglobulin light chains get deposited onto tissues, leading to tissue dysfunction. Amyloidosis in the intestines can present as a wide spectrum of non-specific gastrointestinal (GI) complaints including abdominal pain, changes in bowel habits, overt gastrointestinal bleeding and complaints related to altered motility in over 95% of the patients. In our case report, we describe a 70-year-old male taken to the operating room (OR) for non-resolving small bowel obstruction, found to have pseudo-obstruction and hemorrhagic enteritis. He was also diagnosed with multiple myeloma from a bone marrow biopsy and later biopsy of stomach and duodenum revealed amyloid deposition consistent with amyloidosis. In conclusion, patients with multiple myeloma and vague abdominal complaints should raise suspicion of amyloidosis.
Cutaneous metastasis from prostate cancer is exceedingly rare. We present an unusual case of a 70-year-old male with prostate cancer who developed erythematous papulo-nodular lesion on lower abdominal wall, both groins and external genitalia. Biopsy from the cutaneous lesion showed metastatic adenocarcinoma cells in the dermis and subcutaneous tissue. Immunohistochemistry was positive for prostate specific antigen confirming cutaneous metastasis from prostate cancer. Recognition of such entity is important as it may be mistaken for other skin diseases.
Carcinoma Cutis; Cancer Prostate; Metastasis; Skin Lesion
Background and aims—The liver is frequently
involved in amyloidosis but the significance of hepatic amyloid has not
been systematically studied. We have previously developed scintigraphy
with 123I serum amyloid P component (123I-SAP)
to identify and monitor amyloid deposits quantitatively in vivo and we
report here our findings in hepatic amyloidosis.
Methods—Between 1988 and 1995, 805 patients with
clinically suspected or biopsy proven systemic amyloidosis were
evaluated. One hundred and thirty eight patients had AA amyloidosis,
180had AL amyloidosis, 99 had hereditary amyloid syndromes, and 67had
dialysis related (β2 microglobulin) amyloid. One hundred
and ninety two patients with amyloidosis were followed for six months to eight years.
Results—Hepatic amyloid was found in 98/180
(54%) AL and 25/138 (18%) AA patients but in only 1/53 patients with
familial transthyretin amyloid polyneuropathy and in none with dialysis related amyloidosis. There was complete concordance between hepatic SAP
scintigraphy and the presence or absence of parenchymal amyloid deposits on liver histology. Amyloidosis was never confined to the
liver. Mortality was rarely due to hepatic failure, although hepatic
involvement with AA amyloid carried a poor prognosis. Successful
therapy to reduce the supply of amyloid fibril protein precursors was
followed by substantial regression of all types of amyloid.
Conclusions—SAP scintigraphy is a specific and
sensitive method for detecting and monitoring hepatic amyloid. Liver
involvement is always associated with major amyloid in other organ
systems and carries a poor prognosis in AA type. Appropriate therapy
may substantially improve prognosis in many patients.
systemic amyloidosis; serum amyloid P component
Amyloid deposition in heart is a common occurrence in systemic amyloidosis. But localised valvular amyloid deposits are very uncommon. It was only in 1922 that the cases of valvular amyloidosis were reported. Then in 1980, Goffin et al reported another type of valvular amyloidosis, which he called the dystrophic valvular amyloidosis. We report a case of aortic valve amyloidosis which is different from the yet described valvular amyloidosis.
A 72 years old gentleman underwent urgent aortic valve replacement. Intraoperatively, a lesion was found attached to the inferior surface of his bicuspid aortic valve.
Histopathology examination of the valve revealed that the lesion contained amyloid deposits, identified as AL amyloidosis. The serum amyloid A protein (SAP) scan was normal and showed no evidence of systemic amyloidosis. The ECG and echocardiogram were not consistent with cardiac amyloidosis.
Two major types of cardiac amyloidosis have been described in literature: primary-myelomatous type (occurs with systemic amyolidosis), and senile type(s). Recently, a localised cardiac dystrophic valvular amyloidosis has been described. In all previously reported cases, there was a strong association of localised valvular amyloidosis with calcific deposits.
Ours is a unique case which differs from the previously reported cases of localised valvular amyloidosis. In this case, the lesion was not associated with any scar tissue. Also there was no calcific deposit found. This may well be a yet unknown type of isolated valvular amyloidosis.
Aplasia cutis congenita is a disorder of the skin embryonic development characterized by a defect of localized or widespread areas of skin at birth. The lesions are mostly oval, 1-3 cm in diameter, with localization on the parietal part of scalp (60%) and rarely on the face and extremities.
Herein, we reported a case of aplasia cutis congenita termly born at 39 weeks of gestation to a 30-year-old mother with bronchial asthma attacks. She was referred for 3 punched-out punctate depressed defective lesions in 0.4 cm’s diameter on the vertex covered with necrotic and hemorrhagic crusts. There was a hypertrichotic area consisting of tufts of terminal hair on the lumbosacral area over a sinus tract. Maternal perinatal drugs included aerosol salbutamol sulfate, ipratropium bromide and oral montelukast sodium for bronchial asthma. The pregnancy was firstly started as a di-chorionic, di-amniotic twin gestation, but deteriorated after the fetal resorption of the co-twin in the 20th gestational week resulting in fetus papyraceus.
In multi-gestational pregnancies, the presence of the fetus papyraceus or the death of the co-twins should make the neonatologists and dermatologists be aware of the possible cutaneous defects like aplasia cutis congenita. We emphasize that the possibility of this rare entity should be kept in mind in the presence of fetus papyraceus, perinatal drug use, maternal cigarette smoke, or maternal diseases like bronchial asthma in multiple gestations.
alopecia; aplasia cutis congenita; bronchial asthma; cigarette smoking; faun tail naevus; fetus papyraceus; ipratropium; montelukast; nevoid hypertrichosis; salbutamol