HYPER IgE SYNDROME WITH UMBILICAL HERNIA

Hyper IgE Syndrome (HIES) is a rare multi system genetic immunodeficiency disorder, with immunological and non-immunological features. Immunolgical features are 1) Recurrent cutaneous abscesses, 2) Atopic dermatitis like lesions, 3) Sino pulmonary infections, 4) Elevated serum IgE levels and 5) Abnormal neutrophil chemotaxis. Non immunological features include cranio facial and skeletal abnormalities. We are reporting a girl with classical features of HIES with umbilical hernia with her younger brother suffering from right sided inguinal hernia, as both herniae are hitherto unreported in patients with HIES.     

CRUSTED PILOLEIOMYOMA WITH MENTAL RETARDATION: A RARE ASSOCIATION

Piloleiomyoma is an uncommon benign smooth muscle neoplasm arising from arrector pili muscle. It is clinically defined by the presence of solitary or multiple reddish brown, dome-shaped, smooth papules or nodules, ranging in size from a few millimeters to a centimeter. The patients are otherwise healthy; but mental retardation developing in some patients with multiple Piloleiomyomas has been emerging as an intriguing matter for analysis by the scientists. In this case report, a mentally retarded patient with Piloleiomyoma is described, who, besides the characteristic smooth and dome-shaped lesions on the anterolateral aspect of the dorsum of the right foot, had developed crusting on one of the largest lesions. The histopathological features were consistent with Piloleiomyoma. The occurrence of Piloleiomyoma in a mentally retarded child and its unusual crusted nature has been rarely reported. The association between Piloleiomyoma and mental retardation is further stressed in this case report.     

DIFFUSE PLANE XANTHOMATOSIS IN A PATIENT WITH BUDD-CHIARI SYNDROME AND MONOCLONAL GAMMOPATHY

Diffuse plane xanthomas are characterized by the presence of yellowish plaques on the eyelids, neck, upper trunk, buttocks, and flexural folds. Histology shows foamy histiocytes in the dermis. Approximately half of the cases are associated with lymphoproliferative disorders. Budd-Chiari syndrome is an uncommon condition induced by thrombotic or nonthrombotic obstruction of hepatic venous outflow. We present a case of diffuse plane xanthoma in a 62-year-old man who developed normolipemic plane xanthomas coinciding with Budd-Chiari syndrome and monoclonal gammopathy. We review the English-language literature regarding the rare association of xanthomas and Budd-Chiari syndrome.     

OLMSTED SYNDROME

Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child''s mobility after that stage.     

STUDY OF THE ROLE OF SERUM FOLIC ACID IN ATOPIC DERMATITIS: A CORRELATION WITH SERUM IgE AND DISEASE SEVERITY

Background:

Most atopic dermatitis (AD) patients have elevated serum immunoglobulin E (IgE). Impaired folic acid (FA) metabolism was found to reduce the intracellular methyl donor pool, associated with a higher prevalence of atopy.

Aim:

To assess serum IgE and FA in AD patients and to correlate their levels with the disease severity, and with each other.

Materials and Methods:

Twenty patients with AD were assessed for serum FA and IgE, compared with 20 age- and sex-matched controls. Patients were classified into three groups (mild, moderate, and severe AD) based on clinical severity according to Nottingham index. In both patients and controls, serum IgE was measured using Enzyme-linked immunosorbent assay technique and serum FA was measured using Microparticle Enzyme Immunoassay technique.

Results:

Serum FA levels were lower in AD patients compared with controls, but the difference was not statistically significant. FA levels did not show statistically significant difference among disease severity groups and did not correlate with serum IgE levels. On the other hand, serum IgE levels were significantly elevated in AD patients compared with controls, and among AD patients, its levels were significantly elevated in severe AD compared with mild and moderate disease.

Conclusion:

Serum IgE is useful in assessment of AD severity and activity. FA contribution to AD needs further investigations.     

BART'S SYNDROME

A new-born girl presented with congenital absence of skin on the right leg and nail abnormalities. On second day of life, she developed multiple blistering skin lesions and died on seventeenth day of life. A positive family history of two other siblings, one male and one female who had blistering skin lesions and died within one and a half month of birth, was present. The diagnosis of Bart''s syndrome was made on clinical presentation, family history and skin biopsy.     

INFANTILE IATROGENIC CUSHING'S SYNDROME

High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing''s syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing''s syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.     

RARE PRESENTATION OF KYRLE'S DISEASE IN SIBLINGS

Background:

Kyrle''s disease is a rare variant of primary perforating dermatosis. Its occurrence in a familial setting, especially in children, is extremely uncommon. Similar appearing skin lesions have been described in adults, secondary to metabolic disorders, infective agents as well as exposure to chemicals. We present a rare case of this genodermatosis in two siblings.

Materials and Methods:

Two siblings of a non-consanguineous marriage came with generalized discrete papular lesions with a central keratotic plug. All biochemical and serological investigations were within normal limits. Serial sections of the biopsy revealed typical epidermal invaginations filled with parakeratotic debris and perforation into the dermis with accompanying granulomatous reaction.

Results and Conclusions:

A careful history, detailed routine investigations and serial sections of the skin biopsy are required to demonstrate the typical morphology and stages of evolution of Kyrle''s disease. This helps to differentiate the rare primary Kyrle''s disease from other primary and secondary keratotic lesions. Due to the familial occurrence, screening of relatives of an index case is recommended.     

MUCOSAL PATCH ON ANUS: A RARE SEQUEL OF SODOMY

A case of mucosal patch on the perianal area of a 15-year-old boy with history of frequent sodomy is presented here.     

PATCH TESTING WITH DERMATOPHAGOIDES AND ITS CORRELATION WITH CHRONIC ECZEMA AND ATOPIC DERMATITIS

Background:

Chronic eczema is commonly encountered in the Indian set up. So also is atopic dermatitis. House dust mites (Dermatophagoides) are implicated in various diseases like atopic dermatitis, asthma, and perennial rhinitis. It has also been proven that patch testing with Dermatophagoides pteronyssinus (DP) is important for detection of contact sensitization in chronic dermatitis.

Aims:

To study clinical characteristics of DP mix positive patients with regards to chronic dermatitis and atopic dermatitis.

Methods:

Dermatology outpatients presenting to the department of Skin and STD of Kasturba Medical College (KMC), with clinically diagnosed atopic dermatitis and chronic eczema were chosen for the study. Inclusion and exclusion criteria were well demarked. Eighty six randomly selected patients of dermatitis were subjected to patch testing with standard series and DP mix.

Results:

Of the 86, 50 (58%) showed positive reaction to DP mix. Among these positive patients, chronic dermatitis was seen in 42 (84%) with involvement of exposed parts in 37 (74%). Atopic dermatitis was seen in 19 patients (38%) from DP positive group whereas it was observed in 4 patients (17%) from the other group.

Conclusion:

Dermatophagoides mix positivity was statistically significant in chronic eczema as well as atopic dermatitis. Patch testing is an important tool to detect delayed type allergy to house dust mite.     

AVASCULAR NECROSIS: A RARE COMPLICATION OF STEROID THERAPY FOR PEMPHIGUS

A patient of pemphigus vulgaris presented with avascular necrosis of the femur after long-term high-dose corticosteroid therapy. Corticosteroids used on a long-term basis can cause avascular necrosis of bone and this has been seen in various diseases. This is attributable to both the disease process itself and the therapy i.e. corticosteroid usage. In dermatological practice avascular necrosis of bone has been seen more commonly with SLE and also with psoriasis using long-term steroids. Avascular necrosis in a case of pemphigus on steroid therapy is a rare finding. We report such a case of pemphigus vulgaris developing avascular necrosis of bone following corticosteroid therapy.     

SCLEREDEMA DIABETICORUM WITH UNUSUAL PRESENTATION AND FATAL OUTCOME

We present a case of Scleredema Diabeticorum (SD) in a patient with diabetic neuropathy and restrictive respiratory disease with unusual skin lesion distribution. The onset of dermatologic symptoms heralded a progressive respiratory disease with constrictive component. Painful diabetic neuropathy was noteworthy and difficult to relieve. Predominantly, distribution of the skin lesions on the thighs makes the case exceptional. T2-weighted MRI showed abnormal hyperintensities along the muscles of the thighs in correspondence with the skin lesions. Gait and respiratory symptoms progressively worsened. After a transient remitting period, he developed sudden shortening of breath, arrested and expired at home.The atypical distribution of the skin lesions with further involvement of underlying muscles plus concomitant polyneuropathy and respiratory constrictive disease with sudden death is quite unusual and aggressive presentation of SD.     

COMPARISON OF PLASMA MALONDIALDEHYDE, GLUTATHIONE, GLUTATHIONE PEROXIDASE, HYDROXYPROLINE AND SELENIUM LEVELS IN PATIENTS WITH VITILIGO AND HEALTHY CONTROLS

Background:

The etiology and pathophysiologic mechanism of vitiligo are still unclear. The relationship between increased oxidative stress due to the accumulation of radicals and reactive oxygen species and the associated changes in blood and epidermal component of vitiliginous skin have been reported many times. We investigated the possible changes of plasma malondialdehyde, glutathione, selenium, hydroxyproline and glutathione peroxidase activity levels in patients with vitiligo in order to evaluate the relationship between oxidative stress and etiopathogenesis of vitiligo.

Materials and Methods:

Plasma malondialdehyde, glutathione, hydroxyproline and glutathione peroxidase activity levels were measured by spectrophotometric methods, and HPLC was used for measurement of selenium concentrations.

Results:

Our results showed increased malondialdehyde, hydroxyproline and glutathione peroxidase activity levels in plasma of vitiligo group (P < 0.05).

Conclusion:

Support of antioxidant system via nonenzymatic antioxidant compounds and antioxidant enzymes may be useful to prevent of melanocyte degeneration which occur due to oxidative damage in vitiligo.     

Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.     

Stewart-Bluefarb Acroangiodermatitis in a Case of Parkes-Weber Syndrome

Stewart-Bluefarb acroangiodermatitis is the occurrence of pseudo-kaposiform changes with an underlying arterio-venous malformation. Parkes-Weber syndrome is a triad of arterio-venous malformation with varicose veins with bony and soft-tissue hypertrophy involving the extremity. A 13 year-old-female presented with ulcerated growth with bleeding episodes on right leg since past four years. A reddish discoloration over right leg was noticed at four years of age which remained unchanged until nine years of age, after which it showed rapid increase in size along with disproportionate increase in length and girth of right lower limb. Examination revealed hyperpigmented soft verrucous plaque over the right lower one-third of leg, along with presence of ulcers and dilated tortuous veins in the right lower leg with thrill and bruit over the right popliteal and inguinal region. A differential diagnosis of verrucous hemangioma and arterio-venous malformation with pseudo-kaposiform change was considered. Skin biopsy showed multiple fenestrated capillaries with perivascular lymphocyte infiltrate suggestive of capillary malformations. X-ray showed osteolytic defect in right tibia. Duplex ultrasound and magnetic resonance imaging of right leg showed multiple fast flowing small and medium sized arterio-venous malformations of small to moderate size. Thus, on the basis of clinical and radiological features, we made a diagnosis of Stewart-Bluefarb type of acroangiodermatitis with Parkes-Weber syndrome. She was managed conservatively with compression stockings.     

RECURRENT IMPETIGO HERPETIFORMIS WITH DIABETES AND HYPOALBUMINEMIA SUCCESSFULLY TREATED WITH CYCLOSPORINE, ALBUMIN, INSULIN AND METFORMIN

We report the case of a patient with recurrent impetigo herpetiformis associated with diabetes mellitus, hypoalbuminemia, and hypocalcaemia; who was refractory to corticosteroids. Cyclosporine along with other supportive measures proved to be life-saving with maintenance of pregnancy.     

VITILIGO TREATMENT WITH VITAMINS, MINERALS AND POLYPHENOL SUPPLEMENTATION

Background:

Mammalian pigmentation results from the synthesis and accumulation of photo protective epidermal melanin. Melanin was formed from the amino acid precursor L-tyrosine within specialized cells, the melanocytes. Oxidative stress has been suggested to be the initial pathogenetic event in melanocyte degeneration with H₂O₂ accumulation in the epidermis of patients with active disease. Auto immunity has been also suggested as another hypothesis in the pathogenesis of depigmentation disorders. Topical corticosteroids and phototherapy as common treatment modalities have been prescribed in patients with vitiligo. However, they are often not effective and safe (epidermal atrophy). Therefore, research for alternative therapies continues.

Aims:

To evaluate the beneficial effects of a supplementation with antioxidant vitamins (A, C, E) and minerals (zinc, selenium) for vitiligo treatment.

Methods:

Forty experimental autoimmune vitiligo mice C57BL6, aged from 5 to 12 months showing visible signs of induced vitiligo, were sequentially randomized into five parallel groups (8 mice per group). Each group mice was allocated an identical pre coded cage. the first group (SZV) received the ED + 1,4 g zinc (Zn) + 0.04 g selenium (Se) + vitamins (A 118 UI, C 8,5 mg, E 5,4 UI) /kg diet, the second group (PSZV) received the ED + 1,4 g zinc (Zn) + 0.04 g selenium (Se) + vitamins (A 118 UI, C 8.5 mg, E 5,4 UI)/kg diet + Polyphenol orally, the group 3 (PSZ) received the ED + green tea decoction prepared from 100 g/l (polyphenol orally) + 1,4 g Zn + 0.04 g Se, the 4 (P) received the ED + green tea decoction prepared green tea decoction prepared from 100 g/l, the control group 5(C) received the ED + distilled water. Cure was defined as repigmentation of treated sites. Photographic and optical techniques were used both at the baseline and on weekly basis.

Results:

By the end of the study, mices showed visible repigmentation. Using the investigator''s global assessment, therapeutic success in terms of a clear repigmentation documented in 70% of treated mice.

Conclusion:

Our findings suggest that an antioxidant supplementation is significantly beneficial in contributing superior clinical efficacy to cure vitiligo.     

MYXOID NEUROTHEKEOMA: A RARE SOFT TISSUE TUMOR OF HAND IN A 5 MONTH OLD INFANT

Myxoid Neurothekeoma is a rare benign nerve sheath tumor, commonly seen in young females. Patients usually present with a small nodule in different anatomical sites, commonly involving the face and the upper limb. We present the case of a five-month-old boy, who presented with a nodule on the left thumb. Punch biopsy and immunostaining confirmed the diagnosis of myxoid neurothekeoma. We believe this is the first reported case of myxoid neurothekeoma below 12 months of age.     

THYROID DYSFUNCTION AND THYROID ANTIBODIES IN IRANIAN PATIENTS WITH VITILIGO

Vitiligo is a common skin disorder, and the pathogenesis is unknown. An increased prevalence of autoimmune thyroid diseases has been described in these patients. The aim of this study is to assess the prevalence of thyroid dysfunction and hypoparathyroidism in patients with vitiligo.

Materials and Methods:

One hundred and nine patients (38 males and 71 females with vitiligo were enrolled. Thyroid physical examination was carried out. Thyroid function tests, thyroid antibodies, calcium and phosphorus were assessed. The collected data were analysed by SPSS version 11.

Results:

Thyromegaly was found in 30.1% of patients. Hypothyroidism was found in 16 (15.7%) out of 109 cases. Two of them had clinical and 14 had subclinical hypothyroidism. One patient had Grave''s disease. Antibody positivity was the most common disorder (anti-TPO and anti-tg were positive in 36.7 and 32.1%, respectively). No patient had hypoparathyroidism.

Conclusion:

According to our study, thyroid dysfunction, particulary hypothyroidism and thyroid antibodies increase in patients with vitiligo. We recommend thyroid antibodies assessment and thyroid function evaluation in these patients.     

COMPARATIVE EVALUATION OF LONG PULSE ALEXANDRITE LASER AND INTENSE PULSED LIGHT SYSTEMS FOR PSEUDOFOLLICULITIS BARBAE TREATMENT WITH ONE YEAR OF FOLLOW UP

Background:

Existing remedies for controlling pseudofolliculitis barbae (PFB) are sometimes helpful; however the positive effects are often short lived. The only definitive cure for PFB is permanent removal of the hair follicle.

Aims:

Our aim was to compare the efficacy of the Alexandrite laser with the intense pulsed light system in the treatment of PFB and to follow up the recurrence.

Methods:

Twenty male patients seeking laser hair removal for the treatment of PFB were enrolled in this study. One half of the face was treated with the long-pulse Alexandrite laser and the other half was treated with the IPL system randomly. The treatment outcome and any complications were observed and followed up for one year.

Results:

All patients exhibited a statistically significant decrease in the numbers of papules. Our results showed that the Alexandrite-treated side needed seven sessions to reach about 80% improvement, while the IPL-treated side needed 10-12 sessions to reach about 50% improvement. During the one year follow up period, the Alexandrite-treated side showed recurrence in very minimal areas, while the IPL-treated side showed recurrence in bigger areas.

Conclusions:

Our results showed that both systems might improve PFB but Alexandrite laser was more effective at reducing PFB than IPL.