Clouston syndrome is a rare genodermatosis that affects skin and annexes. It is a form of ectodermal dysplasia characterized by generalized hypotrichosis, palmoplantar hyperkeratosis and nail dystrophy. This paper reports a 25-year follow-up of a patient with Clouston syndrome, from childhood to adulthood, monitoring diagnosis and clinical course of the disease.

Pachyonychia congenita type II is an autosomal dominant inherited rare genodermatosis characterized by dystrophic wedge shaped thickened nails with subungual hyperkeratosis, symmetric palmoplantar keratoderma, steatocystoma multiplex. Here we report a 23-year-old male with characteristic features of dystrophic nails, palmoplantar keratoderma, steatocystoma multiplex, follicular hyperkeratotic p...

Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare genodermatosis that affects predominantly females, since it is generally lethal to male fetuses in utero. It is characterized principally by skin lesions, but may also involve dental, ophthalmological and neurological abnormalities. The skin lesions are present in four different phases: vesicular, verrucous, hyperpigmented and atrophi...

Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system, amongst other organs. The Authors report a rare case of Incontinentia Pigmenti in a female newborn.

Papillon-Lefèvre syndrome is a rare autosomal recessive genodermatosis characterised by palmoplantar hyperkeratosis and severe early-onset periodontitis. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is very rare. Here, we report on a 67-year-old German Caucasian male with Papillon-Lefèvre syndrome associated with recurrent squamous cell carc...

The Gulf Journal of Dermatology and Venereology ABSTRACT Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. We present an infant with focal dermal hypoplasia who, besides having a constellation of anomalies commonly encountered in patients with this syndrome, manifested additional unusual feature...

Atrophoderma vermiculata is a rare genodermatosis with usual onset in childhood, characterized by a "honey-combed" reticular atrophy of the cheeks. The course is generally slow, with progressive worsening. We report successful treatment of 2 patients by means of the carbon dioxide and 585 nm pulsed dye lasers.

We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis. The baby had thin, tightly adherent skin that causes arthrogryposis and respiratory insufficiency. Histological findings of the skin include flat dermal-epidermal junction, thinned dermis with compactly arranged collagen fibers, and hypoplastic appendage structure...

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosens...

We report a case of spontaneous recurrent pneumothorax in a 32-year-old male with a family history of Birt–Hogg–Dube syndrome. Specific aspects of the surgical treatment for a pneumothorax within this particular setting are discussed as well as the potential underdiagnosis of this complex genodermatosis. The literature linking the syndrome to spontaneous pneumothorax is reviewed.