A case of Tricorhinophalangeal syndrome

Sanli H. E., Parlak N., AKAY B. N., ILGIN RUHİ H., Oktem B.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, vol.48, no.3, pp.156-159, 2014 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 48 Issue: 3
  • Publication Date: 2014
  • Doi Number: 10.4274/turkderm.71363
  • Journal Name: TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.156-159
  • Keywords: Cone-shaped epiphyses, hypotrichosis, Trichorhinophalangeal syndrome, SYNDROME TYPE-I, TRICHORHINOPHALANGEAL-SYNDROME, GROWTH, GENE
  • Ankara University Affiliated: Yes

Abstract

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and various skeletal abnormalities. TRPS type 1 differs from type 2 by the absence of mental retardation and exocytosis and from type 3 by the absence of shortening in generalized phalanges, metacarpals and metatarsals. Systemic symptoms, such as renal and cardiac defects, growth retardation and mental retardation may accompany TRFS. Herein, we present a 10-year-old girl who was diagnosed with TRPS type 1 accompanied by sparse, weak and slow-growing hair since birth, thinning of the lateral portion of the eyebrows, long philtrum, pear-shaped nose with a typical triangular facial appearance, camptodactyly of the finger joints, in radiological evaluation, cone-shaped epiphyses in hands and feet phalanges, and malocclusion. The patient was with normal cytogenetic, no deletion of 8q24 was detected.