clericuzio-type poikiloderma with neutropenia (pn) is characterized by poikiloderma, non-cyclic  neutropenia,  recurrent  sinopulmonary  infections,  pachyonychia,  and  palmo- plantar hyperkeratosis. mutations in the c16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of pn. pn was first described by clericuzio in navajo indians. herein, we reported the clini...

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Ind...

Helen Ollendorff Curth (1899-1982), is one of the pioneers in dermatology. In 1954, she and Madge Thurlow Macklin (1893–1962), an American medical geneticist, reported, a rare congenital genodermatosis that was later known as Curth-Macklin syndrome. This syndrome is a rare autosomal dominant skin disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma. This report shed ...

The association of herpetoid corneal changes with circumscribed palmo-plantar keratoderma was first described by Richner (I938). Hanhart (1947) suggested that this represented a recessively inherited ectodermal syndrome, and the condition is sometimes called the Richner-Hanhart syndrome. Subsequent reports have been relatively few: Cremona (I 957); Kuske (I959); Franceschetti and Thier (I96I); ...

Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmopla...

Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation among patients (2). These circumscribed papu...