Unusual molecular findings in Kindler syndrome.

Kindler syndrome (KS) is a rare inherited skin disorder with blistering and poikiloderma as its main clinical features. It is caused by loss-of-function mutations in the C20orf42 (KIND1) gene which encodes kindlin-1, an actin cytoskeleton-focal contact-associated protein which is predominantly expressed in keratinocytes. We investigated the molecular basis of KS in a 16-year-old Indian boy who had additional clinical findings, including scleroatrophic changes of the hands and feet, pseudoainhum and early onset of squamous cell carcinoma on his foot. Immunostaining for kindlin-1 in the patient's skin was completely absent and sequencing of C20orf42 (KIND1) genomic DNA showed a homozygous splice-site mutation at the -6 position, IVS9-6T-->A. Amplification and sequencing of cDNA from the skin revealed aberrant splicing with either deletion of exon 10 or deletion of exons 9, 10 and 11, both of which involve loss of the pleckstrin homology domain of kindlin-1 that is thought to play a role in cytoskeletal attachment and integrin-mediated cell signalling. Pathogenic splice-site mutations at the -6 position are unusual and have rarely been reported for any genetic disorder. Collectively, these findings extend the spectrum of clinical and molecular abnormalities in this rare genodermatosis.

The genus Malassezia and human disease.

Sabouraud's Pityrosporum is now recognized as Malassezia. With taxonomic revision of the genus, newer species have been included. The role of this member of the normal human skin flora in different cutaneous and systemic disorders is becoming clearer. The immunological responses it induces in the human body are conflicting and their relevance to clinical features is yet to be explored.

Greither's disease.

A 14-year-old girl with diffuse palmoplantar keratoderma with hyperhidrosis and progressive extension of keratoderma to the dorsum of the hands and feet is reported. The inheritance pattern was autosomal dominant.

Inflammatory cutaneous metastasis as a presenting feature of bronchogenic carcinoma.

An elderly man with a long history of smoking presented with an excruciatingly painful mass of short duration on the left side of the neck, without any systemic complaint. Clinical and radiological examination revealed left upper lobe consolidation which was proved to be secondary to bronchogenic carcinoma. Histopathological findings from a skin biopsy from the neck mass were consistent with inflammatory cutaneous metastasis. Interestingly, this was the presenting feature of the underlying malignancy in this patient. This pattern of cutaneous metastasis has rarely been reported in association with bronchogenic carcinoma.

Primary cutaneous nocardiosis: a case study and review.

BACKGROUND: Primary cutaneous nocardiosis is an uncommon entity. It usually occurs among immunocompetent but occupationally predisposed individuals. AIM: To study clinical profile of patients with primary cutaneous nocardiosis in a tertiary care hospital and to review the literature. METHODS: The records of 10 cases of primary cutaneous nocardiosis were analyzed for clinical pattern, site of involvement with cultural study and response to treatment. RESULTS: All the patients were agricultural workers (nine male) except one housewife. The commonest clinical type was mycetoma. Unusual sites like the scalp and back were involved in two cases. Culture was positive in six cases with N. brasiliensis being commonest organism. N. nova which was previously unreported cause of lymphocutaneous nocardiosis, was noted in one patient, who had associated HIV infection. All the patients responded to cotrimaxazole. CONCLUSION: Mycetoma is the commonest form of primary cutaneous nocardiosis and responds well to cotrimoxazole.

Cysticercosis cellulose cutis.

A woman aged 30 years with solitary lesion of cysticercosis cellulose cutis is reported. Cutaneous cysticerci are often a pointer to the involvement of internal organs. Our patient was a pure vegetarian so, probable mode of infection may be ingestion of contaminated vegetables, where the practice of using pig feces as manure is prevalent.

Lichen striatus with nail involvement.

A 13-year-old boy of lichen striatus (LS) with nail changes is reported. Nail involvement in LS is rare. Nail LS is to be considered if--longitudinal ridges and splitting localized to one portion of the nail, single nail involvement and presence of skin lesions near the nail.

Actinic lichen nitidus.

Many clinical variants of lichen nitidus (LN) have been reported. We describe two children with distribution of LN lesions on sun exposed areas with typical histological features of LN. We propose to add actinic LN as another clinical variant.

Vitiligo and psoriasis: coexistence with colocalization.

A 20-year-old male patient with vitiligo who developed psoriasis is reported here. There was co-existence of both diseases and co-habitation lesions at places. Clinical heterogenicity of both diseases and new conclusions are discussed.

Embryonic tail.

An 8-year-old male child with congenital, pedunculated, tail--like lesion in lumbosacral area is reported. Surgical, excision was done, as there were no radiological abnormalities underneath.

Multiple painful neurilemmomas.

A 40-year-old male with painful neurilemmoma is reported. Clinically the patient had multiple painful nodular lesions over the right lower limb. Histopathology confirmed the diagnosis of neurilemmoma. The probable mechanism for painful nodular presentation is highlighted.

Association of alopecia areata, vitiligo and pemphigus vulgaris.

A 50-year-old female had vitiligo and alopecia universalis. She developed pemphigus vulgaris with a history of recent increase in the size of the vitiligo patch. Corticosteroid therapy controlled the pemphigus vulgaris, halted the extension of the vitiligo lesion and promoted regrowth of hair. The coexistence of these three diseases in the same patient lends credence to the contention that autoimmunity plays a role in the pathogenesis of these diseases.