Tuen Mun Social Hygiene Clinic, 9/F, Tuen Mun Hospital, Ambulatory Care Centre, Ching Chung Koon Road, Tuen Mun, New Territories, Hong Kong Darier's disease (Keratosis follicularis) is an uncommon autosomal dominant genodermatosis. Patients present with hyperkeratotic papules in seborrhoeic areas with nail abnormalities. We describe a young gentleman with this disorder for more than three years...

We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant ...

Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis characterized by various sizes of both hyper- and hypopigmented macules arranged in reticulated patterns on the face and the dorsal aspects of the extremities. There are also cutaneous and extracutaneous abnormalities, but they are rare. As far as we know, DSH associated with immune-mediated conditions has not been reported. W...

Dowling-Degos disease (DDD) or reticular pigmented anomaly of the flexures is a rare autosomal dominant genodermatosis with variable penetrance. It mainly affects young women and is characterized by acquired reticular hyperpigmentation of the large skin folds. We present a case of DDD associated with hidradenitis suppurativa (HS) in a 43-year-old Spanish woman. Physical examination revealed bro...

Linear porokeratosis is a genodermatosis, caused by a clonal proliferation of keratinocytes along the lines of Blaschko. This type of porokeratosis is particularly susceptible to malignant degeneration e.g. to Bowen disease, a squamous cell carcinoma (SCC) in situ with the potential for significant lateral spread. Here we report a case of linear porokeratosis on the left leg of a 56-year-old ma...

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...

Rodrigo Siqueira-Batista1, Mauro Geller2 and Andréia Patrícia Gomes3 1Professor of Internal Medicine, Neuroscience and Immunology/Microbiology, Centro Universitário Serra dos Órgãos (UNIFESO); 2Professor of Immunology and Microbiology, Centro Universitário Serra dos Órgãos (UNIFESO); Coordinator of Genodermatosis, Genetic Services, Instituto Puericultura e Pediatria Martagão Gesteira (IPPMG), F...

Cowden's syndrome (CS) is a rare genodermatosis, of autosomal dominant inheritance and variable phenotype, principally characterized by the formation of hamartomas in various organs, including skin, thyroid, breast, brain, and gastrointestinal tract and by the increased risk for the development of malignancy. The present report details the features of a very rare presentation of Cowden's syndro...

KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood ...