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

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

Miltefosine in treatment of old world cutaneous leishmaniasis in Pakistan

To evaluate the efficacy of miltefosine in the treatment of cutaneous leishmaniasis Uncontrolled, open label, quasi-experimental study Place and Duration of Study: The study was carried out in Military Hospital Rawalpindi and five other Army Hospitals from Jan 2006 to Aug 2006. This study was dome to investigate the efficacy of treatment of cutaneous leishmaniasis patients with oral miltefosine in doses of 2.5 mg/kg/day at 6 centers in Pakistan. The study was conducted among 90 hospitalized adult cutaneous leishmaniasis patients. All patients completed the full 28-days treatment course. The study revealed excellent response in 32[28.8%], good in 38[34.4%], fair in 17[15.3%] and poor in 3[2.7%] patients. Treatment-related adverse events were transient rise in ALT [95%], followed by myalgia [33%], arthralgia [15%], nausea vomiting [12%], bad oral taste [2%], testicular pain [4%], cough [2%], conjunctivitis [2%] and fever [1%]. All theses side effects were transient and settled on discontinuation of medication. Compliance was good The use of oral miltefosine in doses of 2.5 mg/kg/day is effective and well tolerated in old world cutaneous leishmaniasis

Depression in adult dermatology outpatients

To determine the frequency of depression in adult male dermatology outpatients. Cross-sectional study. Combined Military Hospital, Bahawalpur, from January to March 2007. 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. 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. 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