Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by cutaneous and ocular photosensitivity and an increased risk of developing cutaneous neoplasms. Progressive neurological abnormalities develop in a quarter of XP patients. Aim: To study the clinical profile and perform a mutation analysis in Indian patients with xeroderma pigmentosum. Methods: Ten families with 13 patients with XP were referred to our clinic over 2 years. The genes XPA, XPB and XPC were sequentially analyzed till a pathogenic mutation was identified. Results: Homozygous mutations in the XPA gene were seen in patients with moderate to severe mental retardation (6/10 families) but not in those without neurological features. Two unrelated families with a common family name and belonging to the same community from Maharashtra were found to have an identical mutation in the XPA gene, namely c.335_338delTTATinsCATAAGAAA (p.F112SfsX2). Testing of the XPC gene in two families with four affected children led to the identification of the novel mutations c.1243C>T or p.R415X and c.1677C>A or p.Y559X. In two families, mutations could not be identified in XPA, XPB and XPC genes. Limitation: The sample size is small. Conclusion: Indian patients who have neurological abnormalities associated with XP should be screened for mutations in the XPA gene.

Factors affecting the duration of phase I of dexamethasone - cyclophosphamide pulse therapy.

Background: The introduction of dexamethasone-cyclophosphamide pulse (DCP) therapy for the pemphigus group of disorders by Pasricha has revolutionized the therapy for pemphigus. There are very few studies regarding factors affecting duration of phase I of the DCP. Aims: Our purpose was to study the relationship between various factors and duration of the phase I. Methods: A retrospective study of 98 patients of pemphigus on Dexamethasone Pulse therapy was conducted. Patients were classified according to duration of Phase 1 as those with phase I less than 6 months and those more than 6 months and analyzed for variable factors affecting duration of phase I. Results: Disease severity in pemphigus significantly prolonged the duration of phase I of DCP. Longer duration was also observed in patients on concurrent oral steroid therapy (both statistically significant). Conclusion: The findings from our study help us to address patient expectations and apprehensions regarding duration of therapy. A detailed understanding of the various patient and disease related factors responsible for affecting Phase I duration will help in better management of the patient, and the disease.

Subungual hyperkeratosis nail biopsy: A better diagnostic tool for onychomycosis.

Background: Onychomycosis is one of the most common nail disorders. Mycological examination by potassium hydroxide (KOH) mount and fungal culture is the most commonly used diagnostic method. However, it is associated with a low sensitivity. Aims: To evaluate the technique of subungual hyperkeratosis nail biopsy in diagnosing onychomycosis in HIV-infected and immunocompetent adults and compare it with mycological examination. Methods: 34 HIV-positive patients who presented clinically with onychomycosis were recruited in the study from the beginning. There was no screening done for patients with onychomycosis. This has been clarified in manuscript under the heading of methods. Results: All the fungal cultures yielded dermatophytes correlating with the biopsy findings. Only hyphal form of fungus was detected in KOH examination, indicating it was not a contaminant. Clinical types of onychomycosis are stated in discussion. Conclusions: PAS stain of subungual hyperkeratosis nail biopsy was the most sensitive in the diagnosis of onychomycosis in both HIV-infected and non-infected groups.

Trigeminal trophic syndrome: A rare entity.

Trigeminal trophic syndrome is a rare condition resulting from self-manipulation of the skin after a peripheral or central injury to the trigeminal system. The syndrome consists of a classic triad of anaesthesia, paraesthesia, and a secondary persistent or recurrent facial ulceration. We describe a 60 year-old woman who developed this syndrome as a sequel to the gasserian ganglion block for trigeminal neuralgia. She had also developed melasma within 1 year. A remarkable benefit was achieved by proper patient education and topical antibiotics which led to the healing of all ulcerations within 4 weeks. In the case reported here, the diagnosis of the trigeminal trophic syndrome was made primarily as a result of the physician's experience with the syndrome previously.

Penicillamine-induced elastosis perforans serpiginosa with abnormal "lumpy-bumpy" elastic fibers in lesional and non-lesional skin.

Four types of elastosis perforans serpiginosa (EPS) have been described in literature: 1) idiopathic EPS, 2) reactive perforating elastosis associated with connective tissue disorders, 3) in some instances of pseudoxanthoma elasticum (PXE), disease-specific calcified elastic tissue is extruded, producing a clinical picture indistinguishable from other types, may also be seen in patients undergoing hemodialysis and 4) EPS induced by long-term treatment with D-penicillamine is observed in patients suffering from Wilson's disease. Long term D-penicillamine therapy causes an alteration in the dermal elastic tissue. D-penicillamine induced EPS has a distinctive histopathologic feature - serrated appearance of elastic fibers due to perpendicular budding from their surface giving a "lumpy-bumpy" look. D-penicillamine induced elastic fiber alteration may not always manifest clinically as EPS. We report a case of D-penicillamine induced widespread alteration in skin elastic tissue with distinct histopathologic features.

Subcutaneous phaeohyphomycosis caused by cladophialophora boppii.

Subcutaneous phaeohyphomycosis is an infection of the skin and subcutaneous tissue, caused by dematiaceous fungi. An adult male presented with a history of multiple reddish nodules over the face and hands. Histopathological examination of the skin biopsies showed a dense granulomatous infiltrate of macrophages, containing intracytoplasmic basophilic bodies throughout the dermis. Gomori methenamine-silver stained sections revealed yeast cells within macrophages. Multiple cultures on Sabouraud's dextrose agar grew Cladophialophora boppii. The patient was treated with oral itraconazole for a year and the response monitored with dermal ultrasound. This is the first case report of subcutaneous phaeohyphomycosis caused by Cl. boppii in India.

Acroangiodermatitis of mali: A rare vascular phenomenon.

Acroangiodermatitis (synonym pseudo-Kaposi sarcoma) is an unusual, benign condition which clinically presents as purple-colored patches, plaques or nodules, mostly on the extensor surfaces of lower extremities in patients with chronic venous insufficiency and arteriovenous malformations. It resembles aggressive conditions like Kaposi's sarcoma and requires histopathological examination for its diagnosis. We report two such cases of acroangiodermatitis. Histopathology of both the cases showed dilated capillaries in the dermis with extravasated red blood corpuscles (RBCs), hemosiderin deposits, and hyperplastic granulation tissue. Both were treated with oral antibiotics and topical steroids. The ulcers showed a good response within 2 months of treatment.

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?

We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.

Goldenhar syndrome with unusual features.

We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

Photodynamic therapy in dermatology.

Photodynamic therapy is a new modality of therapy being used for the diagnosis and treatment of many tumors. It is now being increasingly used for skin tumors and other dermatological disorders. With its range of application it is certainly the therapy of the future. Its mechanism of action is by the Type II photo-oxidative reaction. The variables are the photosensitizer, the tissue oxygenation and the light source. It has been used to treat various disorders including Bowen's disease, actinic keratoses, squamous cell carcinomas, basal cell carcinomas, and mycosis fungoides. The side-effects are fortunately mild and transient. Newer photosensitizers like methyl aminolevulinate hold a lot of promise for better therapy.