Hereditary sclerosing poikiloderma. Report of two families with an unusual and distinctive genodermatosis

What Is Poikiloderma?

“…In the hereditary sclerosing poikiloderma of Weary, a rare autosomal dominant syndrome, generalized poikiloderma develops in early childhood. It is accompanied by sclerosis of the palms and soles as well as linear hyperkeratotic and sclerotic bands in the flexures of the arms and legs [13]. Congenital scleroatrophy is the hallmark of the scleroatrophic syndrome of Huriez.…”

Hereditary Sclerosing Poikiloderma

“…The five major clinical manifestations of HSP were proposed by Weary et al (1). Of these, the most important features for diagnosis for HSP are widespread poikiloderma and sclerotic bands.…”

“…Hereditary sclerosing poikiloderma (HSP) is a very rare autosomal dominant genetic disease which was first described by Weary et al (1) in 1969. Clinical manifestations consist of 1) widespread poikiloderma with accentuation in flexural areas and over extensor bony prominences, 2) linear or reticular shaped hyperkeratotic and sclerotic bands on the axillae, antecubital and popliteal fossae, 3) sclerosis of the palms and soles, 4) clubbing fingers, and 5) calcinosis of the tissues.…”

CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP)

“…2,7 The identification of a molecular anomaly in FAM111B gives definitive proof of POIKTMP and enables its distinction from other types of hereditary poikiloderma, such as RTS (MIM#268400), hereditary sclerosing poikiloderma of Weary (MIM#173700), poikiloderma with neutropenia (PN; MIM#604173) or Kindler syndrome (MIM#173650). 6,[8][9][10][11] Above all, the main differential diagnosis of POIKTMP is RTS as all patients were initially misdiagnosed with RTS in childhood. These two entities share indeed common characteristics, such as early-onset poikiloderma, ectodermal dysplasia features, palmoplantar hyperkeratotic lesions, growth delay.…”