X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...

Darier disease (DD) is a rare dominantly inherited genodermatosis characterized by loss of intercellular adhesion (acantholysis) and abnormal keratinization. DD is often difficult to manage. Numerous treatments have reportedly been used for the treatment of DD, with limited success. Systemic retinoids are considered the drug of choice for treating DD. However, their use is limited by potential ...

Darier's disease is a rare autosomal dominant genodermatosis. It has an estimated prevalence of 1 in 55,000 to 100,000 individuals, regardless of gender. It is characterized by multiple keratotic papules on the seborrheic areas of the trunk, scalp, forehead and flexures, and the clinical picture is worsened by heat, sun exposure, perspiration and mechanical trauma. Histopathology observed loss ...

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH...

Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report 39-year-old woman with EI, who presented generalized erythroderma since birth, followed by hyperkeratosis later in life. The physical examination revealed without blistering or erosion. histopathological studies parakeratosis and psoriasiform hyperplasia, significant epidermolysis. Sanger sequencing missense mutation—c.4...

Focal acral hyperkeratosis (FAH) is a rare genodermatosis. FAH usually observed in the second or third decades of life, and it type palmoplantar keratoderma, heterogeneous group diseases characterized by abnormal incrassation palms soles. Although an autosomal dominant inher- itance, could also be sporadic. It known as variant Costa’s Acrokeratoelastoidosis (AKE). Its etiology not clearly there...

H Syndrome is a rare genodermatosis of autosomal recessive inheritance characterised by the presence cutaneous and systemic manifestations. This syndrome due to mutation in SLC9A3 gene encoding hENTt3 transport protein. Still little known rare, its diagnosis difficult. Nearly 100 cases have been described, majority which were from Arab countries. The possible occurrence other undiagnosed or mis...

PC is commonly described as a rare genodermatosis characteristically manifesting as massive subungual hyperkeratosis with nail thickening, focal palmoplantar keratoderma alongwith deep f issur ing and blistering, oral leukokeratosis and discrete follicular hyperkeratosis [1,2]. Other features including abnormalities of teeth, hairs and larynx can also be seen depending on the clinical types. On...