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At a glance

A very rare inherited disorder characterized by association of alopecia, seizures and variable intellectual disability.

Synonyms

Alopecia Epilepsy Pyorrhea Mental Subnormality Syndrome; Alopecia with Mental Retardation Syndrome.

Genetic inheritance

Autosomal recessive.

Incidence

Only few families reported mostly due to consanguinity.

Pathophysiology

Different subtypes have been mapped to chromosomes 3q26.33-q27.3, 3q26.2-q26.31, and 18q11.2-q12.2.

Diagnosis

Association of alopecia, mental subnormality, and psychomotor epilepsy.

Clinical aspects

Alopecia is congenital, permanent, and universal. Periodontal disease is present in all patients. Pigmented nevi can be observed.

Anesthetic considerations

Evaluate epilepsy treatment efficacy (EEG, history). Direct laryngoscopy should be performed carefully to prevent periodontal bleeding. Epilepsy medications should be given the day of surgery. Consider anesthetic drug interaction with epileptic treatment.

References

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Shokeir  MH: Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality. Clin Genet 11:13, 1977.  [PubMed: 830443]
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Timár  L, Czeizel  AE, Koszó  P: Association of Shokeir syndrome (congenital universal alopecia, epilepsy, mental subnormality and pyorrhea) and giant pigmented nevus. Clin Genet. 44:76, 1993.  [PubMed: 8275563]
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Wali  A, Ali  G, John  P,  et al: Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. Ann Hum Genet 71(Pt 5):570, 2007.  [PubMed: 17451405]

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