In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing i...

Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth...

Two men, the first aged 52 years and the second aged 72 years, were diagnosed during the reporting period as having habit-tic deformity. Because of similarities in the history and examination findings of these patients, I will discuss their cases jointly. Neither of the patients stated this problem was his chief concern, but on identification of the condition, both admitted it had been present ...

A 66-year-old male suffered from painful pustular eruptions of acrodermatitis continua of Hallopeau on bilateral thumbs for about 2 years, with associated nail dystrophy and markedly disabled manual skills. Initial treatment with topical corticosteroids, tars and calcipotriol failed to improve the acral lesions. Dapsone therapy began at a dose of 200 mg / day, which cleared the acral lesions wi...

Objective: To study the effects of distal uniplanar locking and bi planar on union times in uncomplicated fractures shaft tibia managed with an intramedullary interlocking nail.
 Study Design: Comparative prospective study.
 Place Duration Study: Department Orthopedics Trauma Combined Military Hospital Rawalpindi from Jan to Nov 2020.
 Methodology: Fifty-three patients having nai...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene, which has a central function in maintaining immunological tolerance. A number of conditions with proven or likely autoimmune pathogenesis occur in APECED: hypoparathyroidism, adrenocortical insufficency, candidiasis, hypogonadism, type 1 diabetes, hypothyroidis...

Twenty-five symptoms, signs, and abnormal investigations were looked for in 20 patients with clinically-definite myotonic dystrophy. Weakness of facial muscles, neck flexors, and arm external rotators was found in all patients (sensitivity = 100%). Arm external rotation has not been reported as a frequently involved muscle in previous clinical studies on myotonic dystrophy. Careful examination ...