INTRODUCTION Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. It is also associated with a variety of non-cutaneous abnormalities such as bone marrow failure, malignancy and pulmonary complications. Among its wide range of clinical manifestations, fatal pneumothorax has rarely been repor...

In considering therapy for onychomycosis, the most important factor to take into account is patient selection rather than treatment selection. Patients should be screened and evaluated for the extent of nail involvement, the amount of subungual debris, the degree of dystrophy, their ability and willingness to follow the regimen, and whether comorbidities are present that may affect the efficacy...

Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d f...

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilita...

Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X linked recessive trait. The locus for the X linked recessive form of DC has been linked to Xq28. We ...

Dyskeratosis Congenita (DC) is a rare inherited disorder of ectodermal dysplasia. It consists of a classical mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and leukoplakia. Pulmonary disease is seen in 10-15%. It is characterized by Idiopathic Pulmonary Fibrosis (IPF), or Idiopathic Familial Pulmonary Fibrosis (IFPF). Non-specific Interstitial Pneumonia (NSIP) has been report...

Acrokeratosis paraneoplastica, or Bazex syndrome, is one of the paraneoplastic syndromes. The characteristic skin lesions include palmoplantar keratoderma, psoriasiform skin lesions, hyperpigmentation, and nail dystrophy. The most common associated neoplasms are squamous cell carcinoma of the upper respiratory tract and other kinds of tumors with cervical lymph node metastasis. A 63-year-old wo...

Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene (13q12), encoding the gap junction protein connexin 30 (C × 30). At present, there is no treatment for the disease and management is purely su...

Dear Editors, Dominant dystrophic epidermolysis bullosa (DDEB) is a rare inherited blistering disorder resulting from mutations in the COL7A1 gene. This gene encodes type VII collagen, a major component of anchoring fibrils, at the dermal–epidermal junction. Its clinical features include recurrent blisters that primarily occur on the extremities as well as nail dystrophy. Here, we report a case...

Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The na...