Tricho-Rhino-Phalangeal Syndrome

Abstract

A case of tricho-rhino-phalangeal syndrome is reported. Abnormally thin hairs were present on the scalp of this patient. Microscopic measurements of scalp hair bulbs disclosed a relative hypoplasia of the dermal papilla which was inserted into a well-developed hair matrix. These findings illustrate that a dermal defect may significantly modulate epithelial differentiation.

Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I

“…In contrast to our SEM findings some authors reported no abnormalities at SEM investigation of the hair in this syndrome (7,8). SEM alterations not having much in common with our SEM findings have been described in other syndromes also belonging to the Ectodermal Dysplasia group such as (trichoonytic type) Hidrotic ectodermal dyspla sia, Autsomal recessive-and X-linked Anhidrotic ectodermal dysplasia (8, J I).…”

“…In type Il TRP syndrome the following symptoms are also present: !arge protruding ears, rnultiple cartilaginous exos toses and some degree of mental retardation or microcephaly (6). Ultrastructural studies of the hair in this syndrome only revealed a reduced diameter of the scalp hair shaft and relative hypoplastic papilla (7). Abnormalities of the cuticular pattem or shaft structure studied by scanning electron microscopy (SEM) have not been reported (7,8).…”

“…Ultrastructural studies of the hair in this syndrome only revealed a reduced diameter of the scalp hair shaft and relative hypoplastic papilla (7). Abnormalities of the cuticular pattem or shaft structure studied by scanning electron microscopy (SEM) have not been reported (7,8).…”