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
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.
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
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
Macular amyloidosis is a common problem seen dermatology out-patient department. Generalized macular amyloidosis presenting with a poikilodermatous appearance is rare. In our case, an 18-year-old male presented with generalized hypopigmented macules with a poikilodermatous appearance of 10-year duration. His developmental milestones were normal with negative family history of similar complaints. Histopathology of hyperpigmented lesions revealed hyperkeratosis and acanthosis of epidermis and hypopigmented lesion showing only hyperkeratosis. Both lesions were showing the deposition of amorphous, hazy material in the tips of papillary dermis with perivascular inflammatory infiltrate. Congo red staining of the amorphous material was positive for amyloid.
Generalized macular amyloidosis; poikilodermatous appearance; congo red stain
Leukemia cutis is the infiltration of neoplastic leukocytes or their precursors into the epidermis, the dermis, or the subcutis, resulting in clinically identifiable cutaneous lesions. Leukemia cutis may follow, precede or occur concomitantly with the diagnosis of systemic leukemia. A 50-year-old woman presented with asymptomatic multiple cutaneous nodules all over the body of 4 months duration. Cutaneous examination showed multiple hyperpigmented nodules and plaques involving face, trunk, and extremities. Peripheral smear showed abnormally elevated leucocyte count (TLC-70,000) with abnormal cells: myeloblasts 40%, promyelocytes 8% and myelocytes 39%. Auer rods were present in few myeloblasts. Bone marrow aspiration showed increased cellularity, erythroid hyperplasia with megaloblastic change, increased myeloblasts with maturation arrest. Immunohistochemistry showed strongly positive myeloperoxidase infiltrating cells and negative for CD20 and CD3 consistent with the diagnosis of AML–M 2 with leukemia cutis. This case is reported for its rarity.
Auer rods; leukemia cutis; myeloperoxidase
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.
Becker's nevus is a relatively common acquired focal epidermal melanotic hypermelanosis usually found in the region of the shoulder girdle of young men. Various skeletal malformations and cutaneous dermatoses have been reported in Becker's nevus. Osteoma cutis is a rare disorder characterized by compact bone formation in the dermis or subcutaneous tissue. Secondary ossification on nevi has been reported, but not with Becker's nevus. Herein, we report a case of Becker's nevus with accompanying osteoma cutis in an 18-year-old female.
Bone neoplasm; Nevus; Osteoma; Pigmented
Leukemia cutis is the cutaneous involvement of leukemic neoplastic cells. It is an uncommon feature of systemic leukemia, and is associated with a poor prognosis. A 20-year-old man presented with a solitary, 2 cm domeshaped, firm, erythematous nodule on the right medial malleolus that was present for 3 months. The patient had a history of venous catheter insertion at the right medial malleolus area 3 months previously. The history was significant for acute lymphoblastic leukemia (ALL) for 4 years; an allogenic bone marrow transplantation was performed 3 years earlier. The histologc examination of the lesion revealed diffuse infiltration of leukemic cells in the dermis and subcutis. Herein we report a case of leukemia cutis at the site of a prior catheter insertion in a patient with ALL.
Acute lymphocytic leukemia; Leukemia cutis; Site of catheter insertion
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
Tuberculosis cutis orificialis (TCO) is a rare manifestation of cutaneous tuberculosis that is caused by auto-inoculation of mycobacteria in patients with advanced internal tuberculosis. TCO occurs in oral, perianal, or genital mucosa and adjacent skin. The tongue is the most frequently affected site, but the perianal area can also be affected. A 39-year-old male presented with a 4-month history of painful ulcers on the perianal area. The histopathologic findings revealed granulomatous infiltrates composed of epithelioid cells and Langhans-type giant cells in the dermis, and a few acid-fast bacilli noted on Ziehl-Neelsen staining. The polymerase chain reaction (PCR) was positive for Mycobacterium tuberculosis and the chest X-ray showed findings consistent with active pulmonary tuberculosis in both upper lung zones. The skin lesion showed complete resolution 2 months after the start of treatment with antituberculosis agents. We report a case of TCO with perianal involvement in a patient with underlying active pulmonary tuberculosis.
Perianal tuberculosis; Tuberculosis cutis orificialis
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.
Background. Cutis laxa (CL) is a rare disorder of elastic tissue characterized by loose, sagging skin with reduced elasticity, and resilience without resulting scarring. CL may be inherited as a dominant, recessive, or X-linked recessive disease, or acquired. The heritable forms of CL predominantly begin at birth, but it may be delayed until puberty or age of 30 years with extracutaneous manifestations including pulmonary emphysema, umbilical and inguinal hernias, and gastrointestinal and vesicourinary tract diverticuli. An acquired form of the disease occurs in adults with no evidence of internal organ involvement.
Objective. The aim of this case report was to present our patient suffering from CL, and to evaluate clinical presentation, diagnostic and therapeutic difficulties in this rare condition.
Case Report. A 30-year-old female patient was admitted to our Hospital due to localized loose and sagging skin of abdomen, induced by prior cesarean section 6 years ago. CL has been diagnosed based on the clinical picture and pathohistological appearance. Conclusion. Reconstructive surgery provides a dramatic cosmetic improvement with significant psychosocial benefit. Repeated surgical procedures may be required to correct the lax skin, which worsens with age.
A 10-year-old, spayed female, obese golden retriever, presented for immune-mediated thrombocytopenia, was successfully managed with the administration of vincristine and prednisone. However, 6 mo after discontinuing corticosteroid therapy because of suspected iatrogenic hyperglucocorticoidism, the patient was presented with multiple, firm, bilaterally symmetric, dermal masses composed histologically of differentiated cortical bone.
Amyloidosis is a systemic disorder that results from the tissue deposition of various proteins with distinctive morphological characteristics. Conjunctival amyloidosis is a rare variant which is generally localized and not associated with systemic involvement.
We present here a case of 47-year-old female patient with right eyelid swelling that progressed over a 12 year period and eventually underwent surgery with pathology showing AL conjunctival amyloidosis. Unlike in most other reported cases of localized amyloidosis, she was noted to have amyloid deposition in the bone marrow and gastrointestinal tract upon extensive evaluation without any evidence of underlying plasma cell dyscrasia. She has been on observation without evidence of systemic progression or recurrence of conjunctival amyloid.
Although it initially appeared that our case represented an isolated form of AL (kappa)-type conjunctival amyloidosis, systemic evaluation revealed trace amount of amyloid in the bone marrow and GI tract. It is feasible that upon very close scrutiny patients with seemingly localized AL amyloidosis may have trace amounts of amyloid involving other organs and based on experience from this single patient we believe that it is safe to observe such patients closely rather than pursue systemic therapy
amyloidosis; multiple myeloma; Congo red
Primary localized amyloidosis of lacrimal gland is a rare occurrence. This report describes a female patient with isolated amyloidosis of the lacrimal gland. A 45-year-old Indian woman presented with a swelling over the left lacrimal gland region. Computed tomography showed uniform enlargement of the lacrimal gland. A lacrimal gland biopsy revealed amyloidosis. No systemic involvement was detected on further investigation. To our knowledge, this is the first report of lacrimal gland amyloidosis from India and our report also highlights the importance of lacrimal gland biopsy in diagnosing lacrimal gland masses.
Amyloidosis; lacrimal gland; localized
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
Tuberculosis has been a well-known affliction of human kind, since antiquity. Cutaneous tuberculosis constitutes only a small proportion of extra pulmonary tuberculosis and multifocal involvement of cutaneous tuberculosis is an even rarer manifestation. We report one such case of multifocal tuberculosis verrucosa cutis in a 17-year old male patient in the absence of any primary tuberculous focus.
Multifocal; cutaneous; tuberculosis
We report a 51-year-old Vietnam War veteran with an unusual variant of macular amyloidosis presenting as poikilodermatous skin lesions. The extensive mottled brown pigmentation was checkered with small hypopigmented or normal skin-colored spots and intermingled with telangiectasia. Skin biopsy revealed subepidermal amyloid deposits. There was no evidence of extracutaneous involvements. This case could be easily confused with other true poikiloderma lesions.
Osteoma cutis of the foot is extremely rare and there are very few reported cases. The incidence of in-growing toenail in the United Kingdom is estimated to be 10,000 new cases per year and many are treated non-operatively. We present a case where osteoma cutis was masquerading as an in-growing toenail, and wish to highlight the condition as a differential diagnosis for this condition. There have been case reports of bony cutaneous lesions of the foot, both benign and malignant and so these are especially important to consider in the differential diagnoses where non-operative management is being considered.
Cardiac amyloidosis describes a clinical disorder caused by infiltration of abnormal insoluble fibrils in the heart, characterized by progressive heart failure and a grave prognosis. Pleural effusion in cardiac amyloidosis may represent a sign of heart failure, but it can also result from pleural infiltration of amyloid, manifested by recurrent large fluid accumulations. Recently, the role of vascular endothelial growth factor (VEGF) has been implicated in the pathogenesis of refractory pleural effusion. We report a case of a 53 year-old female patient with cardiac amyloidosis who presented with recurrent accumulation of large pleural effusions. She was initially treated with high dose loop diuretics, but the pleural effusion persisted, with the daily amount of drainage averaging 1 L/day. Accumulation of pleural fluid did not subside after 3 cycles of melphalan/prednisolone therapy. After the introduction of bevacizumab, an anti-VEGF antibody, the amount of pleural effusion decreased significantly. Efficacy of anti-VEGF therapy for refractory pleural effusions needs to be defined through further studies.
Heart disease; Amyloidosis; Pleural effusion; Bevacizumab
Amyloidosis is a heterogeneous disease caused by deposition of amyloid fibrils in organs and thereby interfering with physiological functions. Hardly any incidence data are available and most survival data are limited to specialist clinics.
Amyloidosis patients were identified from the Swedish Hospital Discharge and Outpatients Registers from years 2001 through 2008.
The incidence of non-hereditary amyloidosis in 949 patients was 8.29 per million person-years and the diagnostic age with the highest incidence was over 65 years. Secondary systemic amyloidosis showed an incidence of 1 per million and a female excess and the largest number of subsequent rheumatoid arthritis deaths; the median survival was 4 years. However, as rheumatoid arthritis deaths also occurred in other diagnostic subtypes, the incidence of secondary systemic amyloidosis was likely to be about 2.0 per million. The median survival of patients with organ-limited amyloidosis was 6 years. Most myeloma deaths occurred in patients diagnosed with unspecified or ‘other’ amyloidosis. These subtypes probably accounted for most of immunoglobulin light chain (AL) amyloidosis cases; the median survival time was 3 years.
The present diagnostic categorization cannot single out AL amyloidosis in the Swedish discharge data but, by extrapolation from myeloma cases, an incidence of 3.2 per million could be ascribed to AL amyloidosis. Similarly, based on rheumatoid arthritis death rates, an incidence of 2.0 could be ascribed to secondary systemic amyloidosis.
Cardiac amyloidosis is a manifestation of several systemic diseases known as amyloidoses. Arterial thromboembolic complications have not been reported to occur frequently, although the pathophysiology of cardiovascular amyloidosis would theoretically predispose to such manifestations.
We present the case of a 52-year-old woman, who suffered from cardiac amyloidosis and was admitted to our hospital for left acute limb ischemia. An urgent embolectomy was performed, improving her clinical condition and the pathologoanatomic examination of the embolus revealed deposition of amyloid.
Peripheral arterial thromboembolic events in patients with amyloidosis are rare. An antiplatelet treatment is recommended in such patients with cardiac amyloidosis for the prevention of embolism.
Amyloidosis is characterized by extracellular deposition of abnormal insoluble fibrils, which cause structural and functional disorders. Amyloidosis is classified into primary and secondary disease. We report a case of localized amyloidosis of the urinary bladder. In the English literature, this is the first case effectively treated with occlusive dressing therapy using dimethyl sulfoxide.
A 58-year-old Japanese woman was introduced to our department with asymptomatic gross hematuria. Cystoscopy revealed a gently raised nodule at the right lateral wall. Histopathological findings of this lesion revealed extensive amorphous eosinophilic deposits that stained positive with Congo red and Dylon. The patient was diagnosed with primary localized amyloidosis of the urinary bladder. To treat residual amyloidosis of the bladder, we performed occlusive dressing therapy using dimethyl sulfoxide. After treatment, cystoscopy and magnetic resonance imaging showed no relapse of the mass-like lesion of the bladder wall.
Occlusive dressing therapy using dimethyl sulfoxide is efficacious and tolerable for amyloidosis of the urinary bladder. The maneuver of occlusive dressing therapy was simpler and easier than that of intravesical instillation, and occlusive dressing therapy was advantageous in that the patient could perform the therapy herself every day. However, invasive surgical management including cystectomy should be considered if conservative management is inefficacious.
Amyloidosis; Dimethyl sulfoxide; Occlusive dressing therapy
Amyloidosis is a rare disease characterized by the formation of pathological protein deposits in organs or tissues. It is typically a systemic disease which can occur in a localized form. Amyloidosis of the breast is uncommon. Common mammographic findings of breast amyloidosis are multiple nodules with or without calcifications. We report a case of primary localized breast amyloidosis presenting suspicious microcalcifications on mammography without associated masses. Mammography in a 72-year-old woman displayed multiple, linearly distributed, irregular and rod-like calcifications in the subareolar area of the left breast. The patient underwent surgical excision under mammo-guided needle localization and the pathology was confirmed to be breast amyloidosis.
Breast; Amyloidosis; Microcalcification