Neurofibromatosis 1 (NF-1) is an autosomal dominant genodermatosis with an increased risk of developing mesenchymal malignancies. A 28-year-old woman with NF-1 was admitted to our Department for deep ulcers on the right thigh. The ulcerations had appeared about two years earlier, and were initially diagnosed as pyoderma gangrenosum. The patient received immunosuppressive therapy but only margin...

In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early age. The disease is characterized by cutaneous, ocular, neurological and oral changes. Oral features in the form of early development of squamous cell carcinoma, usually at the lower lip and tip of the tongue may be seen. The disorder is associ...

Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47,XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46,XY...

Background Cowden syndrome (part of the PTEN Hamartoma Tumor Syndromes) is a relatively rare autosomal dominant genodermatosis which is characterized by the growth of lesions in multiple organ systems, including skin, breast, thyroid, endometrium and central nervous system. While most of these lesions are benign, Cowden syndrome confers a substantial risk for several cancers including breast, t...

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestation...

Recent studies from independent laboratories have decisively disclosed the identity of the long-sought 3-5' RNA exonuclease that trims posttranscriptionally the oligouridine tail of U6, which is the small catalytic non-coding RNA promoting premRNA splicing within the spliceosome. This exonuclease, dubbed Mpn1 or Usb1, is a highly conserved enzyme that specifically removes uridines from the 3' e...

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis that presents as a clinical triad including follicular hamartomas, renal neoplasms and lung cysts associated with an increased risk of pneumothorax. FLCN gene defects have been identified as being responsible for BHDS. We herein report the case of a 67-year-old woman with the full-blown BHDS phenotype, characterized by s...

Reticulate acropigmentation of Kitamura (RAK) and Dowling-Degos Disease (DDD) are rare genodermatosis inherited as an autosomal dominant trait with variable penetrance. They are part of a spectrum of diseases with hyperpigmented macules coalescing in a reticular pattern, facial and palmoplantar pits, breaks in dermatoglyphics, comedo-like lesions and epidermoid cysts, and a unique histological ...

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for...

EBRT: electron beam radiation therapy GRT: Grenz ray therapy HHD: Hailey-Hailey disease INTRODUCTION Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is an autosomal dominant genodermatosis. In this condition, dysregulation of intracellular calcium homeostasis leads to impaired desmosome function and suprabasilar acantholysis of the epidermis. Clinically, this condition presen...