Kindler's syndrome: a report of five cases in a family.

Kindler's Syndrome (KS) is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene (also known as KIND-1 gene) that encodes the protein Kindlin-1 (kindlerin). Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. The differential diagnosis of Kindler syndrome include other congenital poikilodermatous and photosensitive conditions including Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. We herein, report the presence of the Kindler's syndrome in 5 out of 7 children of consanguineous parents. To authors' knowledge, this is the first report of Kindler's syndrome involving 5 members of a family.

Association between psoriasis and coeliac disease related antibodies.

BACKGROUND: Psoriasis is a common, chronic, disfiguring, inflammatory and proliferative condition of skin manifested by red, scaly, sharply demarcated, indurated plaques present particularly over the extensor surfaces and scalp. The disease has been found to be associated with celiac disease related antibodies with variable frequencies in different populations of the world. The subset of patients showing this association have a higher psoriasis severity and also respond well to cost effective way of gluten free diet. There is a need to work out the frequency of these antibodies in our local psoriatic patients. METHODS: The study was carried out in Department of Dermatology, Military Hospital Rawalpindi from 4th June to 4th December, 2008. A total of 80 patients of both gender, aged more than 15 with a clinical diagnosis of psoriasis attending dermatology outpatient department were selected. Relevant history and thorough physical examination was performed and disease characteristics like previous treatments received and history of arthropathy were obtained. Coeliac disease related antibodies were assessed on serum by indirect immunofluorescence and data was analysed using software SPSS-13. RESULTS: From the study of 80 patients, celiac disease related antibodies were found in none of the cases. All the severe and mild to moderate patients of psoriasis were negative for IgA antigliadin antibodies, IgG antigliadin antibodies and IgA anti-reticulin antibody. CONCLUSION: This study concludes that celiac disease related antibodies are not present in psoriatic patients irrespective of severity of disease in our local population.

Facial lichen nitidus actinicus.

We report an 18-year-old woman with lichen nitidus with exclusive facial distribution.

Late onset erythropoietic porphyria (Gunther's disease).

Congenital erythropoietic porphyria (CEP) or Gunther's disease is inherited disorder of porphyrin heme synthetic pathway that usually presents early in life. A very rare form of this disease has its onset in later years of life, called late onset erythropoietic porphyria (late onset EP). Fourteen cases of late onset EP have been reported to-date. We report another case of this rare entity in a 40 years old male with associated findings of haemolysis and thrombocytopenia.

Depression in adult dermatology outpatients.

OBJECTIVE: To determine the frequency of depression in adult male dermatology outpatients. STUDY DESIGN: Cross-sectional study. PLACE AND DURATION OF STUDY: Combined Military Hospital, Bahawalpur, from January to March 2007. METHODOLOGY: A consecutive sample was screened for depression by using Urdu version of General Health Questionnaire-12 (GHQ-12). The final diagnosis of depression was based on criteria of International Classification of Diseases-10. RESULTS: Out of the 114 adult males with dermatological disorders, 39 (34.11%) had depression. The frequency and percentage of depression in dermatological conditions was 6 (100%) in psychocutaneous disorders, 2 (66.6%) in urticaria, 3 (66.6%) in pruritis, 7 (57.5%) in acne vulgaris, 4 (50%) in psoriasis, 4 (44.4%) in vitiligo, 3 (37.5%) in melasma, 1 (33.3%) each in hyperhidrosis and alopecia areata, and 9 (20.4%) in eczema. It was not recorded in leprosy and chronic fungal infections. CONCLUSION: Depression was frequently in adult males with dermatological disorders especially psychocutaneous disorders, urticaria, pruritis, acne vulgaris and psoriasis. Depressive symptoms should be specifically explored even at busy dermatology outdoors for early recognition and timely appropriate psychiatric referral.