Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report

Abstract

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant disease characterized by trichologic, craniofacial, and musculoskeletal abnormalities. Predominant clinical features include a pear-shaped nose with bulbous tip, long philtrum, protruding ears, and sparse hair on both the scalp and the lateral third of the eyebrows. Cone-shaped epiphyses are a common radiographic finding. Loose anagen syndrome (LAS) is a sporadic or autosomal dominant condition due to abnormalities in the hair’s anchoring mechanism. It mostly affects children, who usually have reduced hair length, as well as hair that is easily plucked without pain. Recent contributions regarding trichoscopic findings of LAS have been made, describing rectangular black granular structures as a typical feature. An association between TRPS and LAS has been mentioned by hair experts, but no reports documenting this have been published. This case demonstrates the co-existence of both conditions in a patient with characteristic phenotypic traits of TRPS and LAS.

A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report

“…Type III, also known as Sugio-Kajii Syndrome, is similar to type I with more prominent symptoms, more marked growth delay, and more severe shortness of fingers and toes. Therefore, it is considered a severe form of TRPS (2,8). In this study, we report a 15-yearold girl with TRPS1 and the second reported case with a rare non-ossifying fibroma (NOF) in the distal part of her left femur.…”

“…All these three types are inherited as AD diseases with high penetrance and various clinical signs and symptoms depending on the pattern of mutation in the TRPS1 gene (1,6). Craniofacial features entail a thin upper lip with a horizontal smile, the bulbous or round tip of the nose, flat philtrum, maxillary prognathism and micrognathia, as well as large and protruding ears (7,8). Ectodermal abnormalities in these patients present as sparse and slow-growing hairs, especially in the temporal or occipital areas resembling androgenic alopecia, and the recession of the frontotemporal or occasionally occipital hairline (7,9).…”

“…Eyebrows are commonly thick at medial and thin at lateral margins. Brittle, dystrophic, thin, or racket nails are other common presenting signs (7,8). Loose skin is another problem that improves over time (1).…”

“…Mild to moderate intellectual disability, microcephaly, retarded bone age, and multiple exostoses of long bones and around the scapula (sessile or pedunculated) are associated with TRPS type II, known as Langer-Giedion Syndrome. This syndrome results from a microdeletion in EXT1 which seems to be a regulator of longitudinal bone growth (6,8). Microcephaly and redundant skin may be present in TRPS II.…”