Abstract The authors present a rare case of Birt-Hogg-Dubé Syndrome (BHD) that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient's history pneumothoraces. This female patient complained numerous recurrent, small skin-colored growths on face and neck patchy hypopigmentation from multiple treatments she has had treat her “bumpy ski...

Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, according to Happle's classification. The rare o...

We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon"...

incontinentia pigmenti (ip) is an uncommon x-linked dominant genodermatosis characterized by four cutaneous stages and frequent association with dental (90%), central nervous system (33%) and ocular (35%) anomalies. the exact pathogenesis of this disorder remains unknown. herein, we report a newborn girl with inflammatory vesiculobullous and warty skin lesions and a positive family history of i...

Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...

Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. Skin manifestations are the most common and occur in four quite distinct phases. A female infant presented vesiculobullous lesions on trunk and limbs, and a verrucous lesion on the right palm. Biopsy revealed eosinophil exocytosis and pigment incontinence, confirming the clinical hypothesis. Although u...

 SUMMARY X. Pis a rare autosomal recessive genodermatosis characteriseJ by photophohia, severe solar sensitivity, cutaneous pigmentary changes, xerosis and early Jevdopment of mucocutaneous and ocular cancer particularly in sun exposeJ skin. Tumors whichinclude solar keratosis, cutaneous horn, keratoachanthoma, squamous and basal cell carcinoma, malignant melanoma and angioma may developeJ in...

Epidermodysplasia verruciformis is a rare genodermatosis characterized by inherited susceptibility to infection with certain papillomaviruses, which leads to the development of disseminated plane wart-like lesions. In some patients, lesions resembling pityriasis versicolor appear. Epidermodysplasia verruciformis has also been reported in immunosuppressed patients, most notably those with HIV in...