Atrichia associated with mental retardation

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Syndromatic atrichia with mental retardation

Definition
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Heterogeneous group of congenital (predominantly autosomal recessive inherited) atrichia/hypotrichoses associated with mental retardation and with/without other syndrome-typical abnormalities.

Classification
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Atrichia syndromes with mental retardation without associated non-neurological abnormalities can be distinguished (Timar et al. 1993):

  • Atrichia with mental retardation and microcephaly (MIM 203650)
  • Atrichia with mental retardation, pathological encephalogram and epilepsy (MIM 203600)
  • Hypotrichosis with psychomotor retardation, microcephaly and epilepsy.

Atrichia syndromes with mental retardation and associated non-neurological anomalies can be distinguished (Timar et al. 1993):

  • Atrichia with horny cysts and mental retardation (Del Castillo et al. 1974)
  • Shokeir Syndrome (MIM 104130): Near universal atrichia/hypothyroidism with mental retardation, pyorrhea and adult-onset temporal lobe epilepsy (Shokeir 1977)
  • Atrichia with horny cysts, mental retardation, seizures, sensorineural deafness and partial syndactyly (Perniola et al. 1980)
  • Atrichia with mental retardation and dwarfism and with/without epilepsy

Ectodermal dysplasias with atrichia/hypotrichosis and mental retardation

  • XTE syndrome (Xeroderma talipes enamel defect-) or ectodermal dysplasia with xeroderma (Moynahan 1970)
  • Ectodermal dysplasia with severe mental retardation
  • Dermatotrichic syndrome (ectodermal dysplasia with congenital universal atrichia, nail dystrophy and hypohidrosis and generalized ichthyosiform ichth

Etiopathogenesis
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Mostly autosomal recessive inherited genodermatoses with unknown pathogenesis. The rare Shokeir syndrome and the XTE syndrome are inherited autosomal dominant. The inheritance of ectodermal dysplasias with mental retardation is unknown.

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020