A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.
Diffuse alopecia is mainly caused by telogen effluvium, diffuse androgenetic alopecia
(female-pattern hair loss) and diffuse alopecia areata. Differential diagnosis between
the three disorders may be difficult in several occasions. In this second part of our
study, chronic telogen effluvium and diffuse alopecia areata are discussed in detail,
including clinical, dermoscopic and histological aspects. A flowchart presents a
practical and objective differential diagnostic approach to diffuse alopecia.
Alopecia; Alopecia areata; Biopsy; Dermoscopy; Histology
We discuss the differential diagnosis and management of early post-partum seizures and headache following a presumed dural puncture in a 20-year-old female. She initially presented with generalised tonic–clonic seizures preceded by nausea and headache on the fourth post-partum day along with a decreased Glasgow Coma Scale (8/15). Although clinical and laboratory examination including lumbar puncture, computerized tomography and magnetic resonance imaging were normal, a persistent headache was the only symptom. This headache improved dramatically after an epidural blood patch on the eighth post-partum day. The following discussion emphasises that various causes of post-partum seizures and headache should be considered before attributing it to dural puncture alone.
Dural puncture; post-partum period; seizures
Post-partum ovarian vein thrombosis is an uncommon clinical presentation. 90% of cases present as right loin and right iliac fossa pain, within 10 days of the puerperal period. Two such cases that were referred to the Imaging department as suspected appendicitis/ureteric colic are reported. The findings seen on imaging illustrate the difficulty in the clinical and radiological diagnosis of post-partum ovarian vein thrombosis and highlight the need to include it as a differential diagnosis in cases of post partum acute abdomen. Post-partum ovarian vein thrombosis can be accurately diagnosed by appropriate non-invasive investigations to enable early therapy with anti-coagulants and intravenous antibiotics which are the mainstay of treatment. Surgery can be avoided if diagnosis is made early.
Sneddon’s syndrome is a rare vascular disease affecting mainly skin and brain arterioles leading to their occlusion due to excessive endothelial proliferation. The two main features of this syndrome are livedo reticularis and lacunar subcortical infarcts. Here, we describe the case of a 64-year-old woman presenting with a 4-year history of a throbbing, bilateral, parieto-occipital headache associated with facial pain, but without any other accompanying symptom. The pain, initially misdiagnosed as atypical trigeminal neuralgia, worsened up to chronic daily and such severely disabling headache that she was constrained to bed. She presented with reduced cognitive functions, diffuse and severe livedo reticularis, severe myalgias and mild stiffness. All diagnostic test for different diseases were performed and other diseases excluded except for Sneddon’s syndrome. Her symptoms were reduced firstly using acetylsalicylic acid, then ticlopidine 250 mg bid was begun and then Pentoxyphillin, resulting in a significant improvement of symptoms with the disappearance of headache. Her worsening in the first year was characterized by obsessive-compulsive behaviours, body-image misperceptions and panic attacks, improved for a period using olanzapine. Considering this case, we remark the importance of using headache classification to avoid diagnostic errors, secondly, we describe an atypical manifestation of Sneddon’s syndrome and therapeutic efficacy of using ticlopidine and pentoxyphillin.
Uterine atony is the most common cause of primary post partum haemorrhage. We report a case where this was complicated by two rare conditions, platelet storage pool disease and placenta diffusa. Platelet storage pool disease is a platelet aggregation disorder associated with mild to moderate bleeding diathesis. There are limited cases reported in pregnancy. Placenta diffusa is a rare anomaly where all or part of the fetal membranes remain covered by chorionic villi, and is associated with post partum haemorrhage.
A 37-year-old woman was referred to the obstetric haematology clinic for prenatal counselling with a history of three severe post partum haemorrhages, two of which were complicated by placental retention. Platelet aggregation studies confirmed a diagnosis of platelet storage pool disease. She was counselled regarding her risk of a recurrent haemorrhage and a planned delivery was discussed. She subsequently presented at 15 weeks' gestation. Following an uneventful pregnancy, she was covered with prophylactic desmopressin and tranexamic acid before a planned induction of labour. She had a normal delivery but placenta was retained. In theatre, an uncomplicated manual removal was followed by massive haemorrhage secondary to uterine atony. Aggressive medical management and B lynch sutures at laparotomy failed to contract the uterus. Hysterectomy was therefore performed. Placental histology later showed evidence of partial placenta diffusa.
Post partum haemorrhage continues to be a leading cause of maternal morbidity and mortality. In this patient, despite identification and attempts at correction of an identified clotting disorder, major obstetric haemorrhage was not avoided. An additional rare placental abnormality was later found. This case highlights the need for medical staff to be aware and alert to unusual risk factors. However, these factors may be unavoidable and early surgical intervention as per local protocol is recommended to minimise maternal morbidity.
A 36-year-old woman with postpartum hypopituitarism (Sheehan's syndrome: SS) developed postpartum autoimmune thyroiditis (PPAT). She delivered a baby by Caesarean section (620 mL blood loss). At 1 month post partum, she developed thyrotoxicosis due to painless thyroiditis (autoimmune destructive thyroiditis). She was positive for antithyroid antibodies. Postpartum and hypoadrenalism-induced exacerbation of autoimmune thyroiditis caused the thyrotoxicosis due to autoimmune destructive thyroiditis. ACTH was undetectable. She had ACTH deficiency and secondary hypoadrenalism. Hydrocortisone was started. At 6 months post partum, she was referred to us with hypothyroidism. Thyroxine was administered. She had thyrotoxicosis at 1-2 months post partum and then hypothyroidism. She was diagnosed with PPAT. She had hypopituitarism, ACTH deficiency (secondary hypoadrenalism), low prolactin with agalactia, and low LH with failure to resume regular menses. She had empty sella on MRI. She was diagnosed with SS. Three cases with SS have been reported to develop PPAT. Postpartum immunological rebounds and hypoadrenalism-induced immunological alterations (or a combination of the two) might have been responsible for the PPAT.
Antiphospholipid syndrome is an autoimmune disorder characterized by either a history of vascular thrombosis (one or more clinical episodes of arterial, venous, or small vessel thrombosis in any tissue or organ) or pregnancy morbidity in association with the presence of antiphospholipid antibodies. The systemic features of the syndrome are characterized by large variability depending on the affected organ(s). Among them, neurological and behavioural disturbances, dermatological features as livedo reticularis and renal, ocular, liver or valvular heart manifestations have been reported in antiphospholipid syndrome patients. However, studies on the frequency and clinical presentation of the ocular manifestations as the prevailing (first) sign of antiphospholipid syndrome in patients suffering from "unexplained" ocular disease are missing. Herein, we present three cases suffering from unexplained ocular disease as first manifestation of antiphospholipid syndrome.
All the three patients were referred to our department because of unexplained ocular features from the anterior or posterior segment and unexplained neuro-ophthalmologic symptoms. The first patient had bilateral retinal occlusive disease, the second and the third patient had unilateral nonarteritic anterior ischemic optic neuropathy with macular oedema. Moderate to high levels of antiphospholipid antibodies were detected in all of them at baseline as well as 6 to 12 weeks after initial testing confirming the presence of antiphospholipid antibodies. Anticoagulant treatment with acenocoumarol was instituted resulting in stabilization and/or improvement of ocular signs in all of them.
Due to the important diagnostic and therapeutic implications of antiphospholipid syndrome, the possibility of ocular features as the first clinical manifestation of antiphospholipid syndrome should be kept in mind of the physicians particularly in patients with no evident risk factors for ocular disease. In this case, prompt anticoagulant treatment and close follow-up seem to be essential for vision salvation and stabilization.
OBJECTIVE: To describe a novel iatrogenic immunological reaction produced by minocycline. CASE REPORTS: The clinical course and laboratory results of three women who presented with similar rheumatological manifestations after a prolonged exposure to minocycline are described. All three presented a unique reaction manifested by fever, arthritis/arthralgia and livedo reticularis during treatment with minocycline for acne vulgaris. The clinical syndrome was associated with high titre of serum perinuclear anticytoplasmatic antibodies (p-ANCA) and antimyeloperoxidase antibody (anti-MPO). Symptoms resolved after stopping the drug and recurred promptly after rechallenge in all three patients. CONCLUSIONS: Minocycline, which is widely used in the treatment of acne, often without adequate supervision, may induce arthritis and livedo vasculitis associated with anti-MPO.
Polyarteritis nodosa is a rare vasculitis of childhood. Cutaneous PAN (cPAN) is limited to the skin, muscles, joints, and peripheral nerves. We describe a 7.5-year-old girl with cPAN presenting initially as massive cervical edema who later went on to develop subcutaneous nodules, livedo reticularis, myositis, arthritis, and mononeuritis multiplex. The use of corticosteroids resulted in initial clinical improvement, but symptom recurrence necessitated disease modifying antirheumatic drugs and biologic therapy. We review a further 119 reports of biopsy proven cPAN in the literature. A majority of patients (96.6%) had cutaneous involvement; musculoskeletal involvement was common and included both articular (58.0%) and muscular (42.9%) symptoms, and nervous system involvement was least common (18.5%). Corticosteroids were used in the majority of patients (85.7%), followed by use of disease modifying antirheumatic drugs (33.0%), nonsteroidal anti-inflammatory drugs (10.7%), and intravenous immunoglobulin (9.8%). Therapy of cPAN with biologics has only been reported in 2 patients, and we report the first patient treated with Rituximab. A diagnosis of cPAN should be considered in a child with fever, vasculitic rash, and musculoskeletal symptoms. Most children respond to corticosteroids and have a benign course, but some require disease modifying antirheumatic drugs and biologic therapies.
Cutaneous cholesterol embolization syndrome occurs as a result of cholesterol embolization from atherosclerotic plaques lining the walls of arteries and arterioles. It can occur sporadically but is more commonly associated with iatrogenic manipulation via invasive vascular procedures or therapies (anticoagulation or thrombolytics) The three most common organ systems afflicted by cholesterol emboli include the kidneys, gastrointestinal system, and skin.
We present two patients with cutaneous cholesterol embolization A 74-year-old with no prior disease or trauma was referred to the hospital with the acute chest pain. After 24-48 he developed livedo reticularis, followed by necrotic areas like bilaterally on hips and in the lumbar region. The second patient, 69-year-old man with a history of hyperglycemia, hyperlipidaemia, and hypertension was referred with weight loss, bilateral livedo reticularis, severe pain of lower extremities and impaired renal function. The toes first became cyanotic and than skin necrosis developed. Skin biopsy revealed presence of cholesterol clefts in the lumina of small arteries and arterioles. In both patients the necrotic skin and subcutaneous tissue had been debrided. Daily dressing was applied and tissue defects underwent secondary healing.
The diagnosis of cholesterol embolization relies on clinical and histologic examination. Both, diagnosis and treatment needs a multidisciplinary approach, especially in cases of multi-organ involvement.
cholesterol embolization; renal insufficiency; skin necrosis; ulcer
Alopecia areata is an autoimmune disease that is affecting anagen hair follicles. The triggers of autoimmunity in patients with alopecia areata remain unknown.
A 13-year-old boy developed multiple hairless patches of focal hair loss with typical clinical and trichoscopy features of alopecia areata. Mycology examination of the scalp hair and epidermal scrapings reveled massive growth of Alternaria chlamydospora.
We hypothesize that fungal antigens (e.g. antigens involved in fungal melanin synthesis) may be possible triggers, contributing to autoimmune reactions in patients with alopecia areata. We discuss research data, which may indirectly support this hypothesis, however the concept has yet to be verified.
allergy; alopecia areata; Alternaria; autoimmunity; dermoscopy; fluorescence; fungus; hair; IgE; infection; melanin; pathogenesis; phaeohyphomycosis; tines capitis; trichoscopy; Wood’s light
Alopecia areata is a tissue-restricted autoimmune disease of the hair follicle, which results in hair loss and baldness. It is often psychologically devastating. The role of T lymphocytes in this disorder was investigated with cell transfer experiments. Scalp explants from patients were transplanted to severe combined immunodeficiency (SCID) mice and injected with autologous T lymphocytes isolated from involved scalp. T lymphocytes which had been cultured with hair follicle homogenate along with antigen-presenting cells were capable of inducing the changes of alopecia areata, including hair loss and perifollicular infiltrates of T cells, along with HLA-DR and ICAM-1 expression of the follicular epithelium. Similar changes were not noted in grafts injected with scalp-derived T cells that had not been cultured with follicular homogenate. These data indicate that alopecia areata is mediated by T cells which recognize a follicular autoantigen.
We compared the clinical and serological characteristics of 15 patients with onset of systemic lupus erythematosus after the age of 50 with those of 232 younger patients. The sex distribution was similar in both groups. All 15 patients were Caucasian. Autoimmune thyroiditis was found in 20% of the elderly patients. Initial manifestations, which presented more frequently in the older group, included thrombocytopenia (P < 0.05), sicca syndrome (P < 0.01) and cardiomyopathy (P < 0.005), whereas butterfly rash (P < 0.05) presented more frequently in the younger group. Analysis of cumulative clinical symptoms showed that butterfly rash (P < 0.05) and livedo reticularis (P < 0.05) were less frequent in the elderly. However, this group presented a significantly increased incidence of sicca syndrome (P < 0.005) and cardiomyopathy (P < 0.005). Antibodies to double-stranded DNA tended to occur less frequently in older patients (P < 0.05).
Essential thrombocythemia (ET) is a clonal stem cell disease characterized by isolated thrombocytosis and thrombohemorrhagic complications. We describe an unusual case of ET primarly presenting with skin symptoms including erythromelalgia and livedo reticularis (racemosa-type). Persistent thrombocytosis, bone marrow findings, JAK2 gene mutation, and markedly decreased ristocetin-cofactor activity were consistent with the diagnosis of ET and acquired von Willebrand disease. Elevated antiphospholipid antibodies were also found. The present case highlights the complex nature and diagnostic challenge of myeloproliferative disorders such as ET, which can involve multiple organ systems and often shows a variety of microvascular complications, coagulation anomalies, and autoimmune phenomena.
Erythromelalgia; Essential thrombocythemia; Livedo reticularis; von Willebrand disease
Increased levels of IgG anticardiolipin antibodies (ACA) were found in 23 of 98 patients (23%) with systemic lupus erythematosus. Increased levels of IgM ACA were found less frequently (5%). All four patients with major cerebrovascular events had increased IgG ACA, including the two with highest levels, both of whom were men. Six of nine patients with livedo reticularis had increased IgG ACA. In turn, this clinical feature was associated with cerebrovascular disease in two and renal disease in another six. IgG ACA were not associated with other thromboembolic events, thrombocytopenia, serum IgG, or autoantibodies to Ro(SSA), La(SSB), U1RNP, Sm, or double or single stranded DNA.
Cutaneous polyarteritis nodosa (CPAN) is a rare form of cutaneous vasculitis that involves small and medium sized arteries of the dermis and subcutaneous tissue without systemic involvement. It presents with tender subcutaneous nodules, digital gangrene, livedo reticularis and subcutaneous ulcerations. The diagnosis is by skin biopsy and characteristic pathologic feature is a leukocytoclastic vasculitis in the small to medium-sized arterioles of the dermis. We report a rare case of benign cutaneous PAN in a 14-year-old girl who presented with history of fever, subcutaneous nodules with cutaneous ulcer and digital gangrene. The skin biopsy showed leukocytoclastic vasculitis with fibrinoid necrosis in the dermal vessels. She received treatment with steroids and lesions resolved completely over a period of month.
Cutaneous polyarteritis nodosa; livedo reticularis; subcutaneous nodules; leukocytoclastic vasculitis; methotrexate
Alopecia Areata (AA) is a “non-scarring” alopecia that has an autoimmune basis. Though clinically distinctive, problems arise in diagnosis depending on the temporal stage of the disease at presentation; some of them progress to scarring alopecia and predicting its prognosis is difficult. Histological changes depend on the disease stage and site of the biopsy.
To describe the spectrum of histologic features in AA.
Materials and Methods:
A prospective and retrospective study of H and E sections of all biopsies signed out as AA between 2001 and 2009 (20 cases) was undertaken.
The diagnosis was made on vertical sections in all cases. The total number of hair follicles ranged from 1 to 24 with an average of 7 and comprised mainly terminal follicles. Vellus follicles were scanty. Anagen to non-anagen ratio was 1:1.62. Miniaturization of follicles was noted in five (25%) cases. Peribulbar inflammation was seen in all the cases with a dominance of lymphocytes. Perifollicular fibrosis was noted in 12 (60%) and pigment casts in 5 (25%) cases. Scarring was seen in two cases. In these cases, a diagnosis of AA was rendered on the basis of even spacing of the fibrotic units and remnants of the catagenic basement membrane within the scars. The epidermis and interfollicular dermis were normal in all the cases.
The most consistent features of AA are an increase in non-anagen terminal follicles and peribulbar lymphocytic infiltrate. The etiology can be determined even in cases that have progressed to scarring.
Alopecia Areata; histopathology; non-scarring alopecia
Gemcitabine is frequently used for the treatment of many cancers. Not infrequently it leads to development of hemolytic uremic syndrome, presenting with hemolytic anemia, acute kidney injury and occasionally peripheral edema, livedo reticularis and digital necrosis.
A 78 year old man with non-small cell lung cancer developed uremic syndrome following treatment with multiple chemotherapy agents including gemcitabine. He was treated aggressively with hemodialysis and plasmapheresis. Initially he responded but upon attempts at decreasing the frequency of plasmapheresis, lactate dehydrogenase increased and platelet count decreased, indicating continuing hemolysis. Hemolysis responded to splenectomy but he continued to require hemodialysis treatment.
Although many cases of gemcitabine induced HUS have been reported, its cause and pathogenesis remain unclear and it should be used with caution. Frequent monitoring of renal function and close observation of the patient are essential.
HUS; plasmapheresis; gemcitabine
A patient with post-partum thyroiditis is described. She was a 22 year old with a negative family history of autoimmune thyroid disease who was noted to have a high titre of antithyroid microsomal antibody during pregnancy. She developed mild hyperthyroidism 8 weeks post-partum but at 12 weeks she had a mildly painful enlarged thyroid gland. At 20 weeks post-partum she had severe thyroidal pain with dysphagia. The thyroid was exquisitely tender to palpation. She was treated with L-thyroxine and the pain resolved within 4 weeks. This is the first report documenting pain in the thyroid as a feature of post-partum thyroiditis.
Highly variable results of topical diphenylcyclopropenone (DPCP) in the treatment of alopecia areata have been reported so far. The purposes of the present study were to evaluate the efficacy and tolerability of DPCP treatment in severe alopecia areata.
Twenty-eight patients (16 female and 12 male, 10–35 years old, mean age 25 years) with extensive alopecia areata were enrolled in an open-label clinical trial. After sensitization with 2% DPCP, progressively higher concentrations beginning at 0.001% were applied weekly for 6 months to one side of the scalp, after which, if terminal hair growth was noted, the entire scalp was then treated under the same weekly protocol. The maximum concentration of DPCP in acetone was 2%.
Twenty-seven of 28 patients completed therapy. The overall response rate was 81.5% (22/27), complete remission (90%-100% terminal hair re-growth) was obtained 22.2% (6/27) and partial remission (10%-90% terminal hair re-growth) in 59.3% (16/27). In all patients an eczematous reaction consisting of erythema, itching, and scaling at the site of application were observed. During therapy, other side effects including, occipital lymphadenopathy 40.7% (11/27), severe eczema/blister formation 40.7% (11/27), hyperpigmentation 18.5% (5/27) were observed, but no hypopigmentation, vitiligo, contact urticaria, and erythema multiforme-like reaction were seen in the patients. Nineteen of 27 (70.4%) patients had at least one side effect, other than eczematous reaction. Notably, partial recurrence was observed in 50.9% (13/22) of these patients after 6 to 12 months of follow-up. During the follow-up time the maintenance DPCP immunotherapy was continued.
Topical DPCP treatment for alopecia areata is an effective therapy with a slightly high relapse rate during bilateral maintenance treatment. According to the author's knowledge this is the first experience with DPCP in Iran.
Acute compartment syndrome of the lower limb is a rare but severe intra- and post-partum complication. Prompt diagnosis is essential to avoid permanent functional restriction or even the loss of the affected limb. Clinical signs and symptoms might be nonspecific, especially in the early stages; therefore, knowledge of predisposing risk factors can be helpful.
We present the case of a 32-year-old Caucasian woman with acute post-partum compartment syndrome.
Acute compartment syndrome is an important differential diagnosis for the sudden onset of intra- or post-partum lower-limb pain. Predisposing factors for the manifestation of acute compartment syndrome in an obstetric environment are augmented intra-partum blood loss, prolonged hypotensive episodes and the use of oxytocin to support or induce labor because of its vasoconstrictive properties. Treatment is prompt surgical decompression by performing fasciotomy in any affected muscular compartments.
Post-partum pituitary necrosis (Sheehan's syndrome) is a rare complication of post-partum hemorrhage. The diagnosis can be erratic and often delayed. In this case report of Sheehan's syndrome in the post-partum period, the signs were characterized by agalactia, severe hypoglycemia, and low serum levels of thyroid hormones, cortico-adrenal hormones, and gonadotrophin (FSH, LH). The hypophyseal magnetic resonance imaging confirmed the diagnosis of hypopituitarism secondary to pituitary necrosis.
Agalactia; Hemorrhagic shock; Postpartum
Pili annulati is a rare autosomal dominant hair disorder clinically characterized by a pattern of alternating bright and dark bands of the hair, the bright bands appearing dark if observed by transmitted light. This pattern is due to the periodic occurrence of air-filled cavities along the hair cortex which scatter and reflect the light while precluding its transmission. A susceptibility region, including a possibly responsible Frizzled gene, has been mapped to the telomeric region of chromosome 12q, although a specific mutation has not been identified. The condition has sometimes been observed in concurrence with alopecia areata, and in this paper we report a case in whom the concomitant severe alopecia areata was associated with autoimmune thyroid disease and primary IgA deficiency – a quadruple complex which, to our knowledge, has never been previously described. The occurrence of multiple immune disorders in the same patient affected by pili annulati could represent a key to understanding the high prevalence of alopecia areata in this condition. Specifically, in individuals predisposed to autoimmune disease, the molecular alterations that cause the anatomical changes of pili annulati could prompt the immune response against the hair root that underlies alopecia areata.
Pili annulati; Alopecia areata; Molecular changes; Autoimmune disease
Alopecia areata (AA) is an inflammatory hair loss of unknown etiology. AA is chronic and relapsing, and no effective cure or preventive treatment has been established. Vitamin D was recently reported to be important in cutaneous immune modulation as well as calcium regulation and bone metabolism. It is well known that areata is common clinical finding in patients with vitamin D deficiency, vitamin D-resistant rickets, or vitamin D receptor (VDR) mutation. The biological actions of vitamin D3 derivatives include regulation of epidermal cell proliferation and differentiation and modulation of cytokine production. These effects might explain the efficacy of vitamin D3 derivatives for treating AA. In this study, we report a 7-year-old boy with reduced VDR expression in AA, recovery of whom was observed by topical application of calcipotriol, a strong vitamin D analog.
Alopecia areata; Calcipotriol; Therapeutics; Vitamin D