Unkämmbare Haare und atopische Dermatitis bei tricho‐dentoossärem Syndrom

Abstract

The tricho-dento-osseous syndrome is a rare genetic disorder due to a mutation in the DLX3 gene on chromosome 17q21. It can affect hair, teeth, bone and nails, causing phenotypic variability. We report on an 8-year-old girl with tricho-dento-osseous syndrome, who presented in our allergy center with severe atopic dermatitis. Additional clinical findings included light, kinky hair reminiscent of pili trianguli et canaliculi (uncombable hair), enamel hypoplasia and enlarged pulp chambers of the molar teeth (taurodontism). A genetic investigation revealed a de-novo mutation in the DLX3 gene on chromosome 17q21. Electron microscopic examination of the curly hair showed a flattened hair shaft with longitudinal grooves.

Salt Dependence of DNA Binding Activity of Human Transcription Factor Dlx3

“…It has been reported that the substitution of Q178, which is highly conserved during evolution, by Arg causes TDO syndrome [ 6 , 19 ]. R133P, I175S, and S182F are also causative mutations for TDO [ 18 , 22 ]. This means that the Dlx3-HD plays an important role in the biological function of Dlx3, which is linked to TDO.…”

“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

“…TDO is described as a dominant inherited syndrome combining hypoplastic AI with taurodontism, head and neck skeletal anomalies (increased thickness, higher bone density, and obliteration of facial sinuses), and curly or kinky hair. Nail and skin anomalies are often associated with TDO [8][9][10]. Other dental defects, such as pulp obliteration, shorter and dysmorphic roots, and dental eruption disorders (early or delayed), have sometimes been reported [11].…”

Mutations with Hair Shape Phenotypes Abnormalities—The Morphogenetic Waves and Related Diseases

“…Seow [68] reported that the hair defects may vary among affected members of the same family. Mayer et al [62] reported that an 8-year-old girl with TDO syndrome had uncombable hair, enamel hypoplasia and enlarged pulp chambers of the molar teeth. Electron microscopic examination of the curly hair showed a flattened hair shaft with longitudinal grooves.…”

“…Diagnostic criteria are based on the generalized enamel defects, severe taurodontism especially of the mandibular first permanent molars, an autosomal dominant mode of inheritance, and at least one of the other features (i.e., nail defects, bone sclerosis, and curly, kinky or wavy hair present at a young age that may straighten out later). Kinky or tightly curled hair at birth may be a characteristic and distinguishing feature in many families and aid in diagnosing TDO from hypomaturation-type amelogenesis imperfecta [62,63]. TDO syndrome is considered the ectodermal dysplasia with a high penetrance even if the individual signs and symptoms can be present in variable intensities.…”