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At a glance

Mental retardation associated with skin and hair anomalies.

Synonym

Hair Defect with Photosensitivity and Mental Retardation.

Incidence

Three cases have been described (three sisters).

Genetic inheritance

Autosomal recessive. The parents were consanguineous (first cousins).

Diagnosis

Based on the clinical findings and family history.

Clinical aspects

The mental retardation has been described as nonprogressive and mild-to-moderate. Scalp hair looks apparently normal at birth, but within the first few months of life, the patient becomes completely bald. Thereafter, the scalp hair remains sparse, coarse, dry, stubby, fragile, and breaks off easily before it reaches 10 to 15 mm of length. The eyebrows and eyelashes are also sparse, dry, coarse, and break off at a length of only a few millimeters. Body hair is decreased and reaches a length of only 1 to 2 mm long before it breaks off. Microscopic examination of the scalp hair reveals twisted hair shafts (pili torti) with segmental narrowing (monilethrix), and hair shaft fractures with brush-like endings (trichorrhexis). Photosensitivity manifests as erythema and dermatitis in sun exposed areas of the skin, but particularly around the eyes. The sella turcica appears small on skull x-ray, and the anterior and posterior clinoid processes are fused. All tested laboratory parameters were normal. Recurrent infections have been described and one of the patients died from purulent meningitis at the age of 6 years.

Precautions before anesthesia

Routine preoperative assessment. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

The features of the syndrome do not suggest that any specific precautions are required.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

  • Brittle Hair and Mental Deficit Syndrome (Sabinas Brittle Hair Syndrome): Genetic disorder characterized by abnormal hair and mental deficiency.

  • Netherton Syndrome (Psoriasiform Ichthyosis; Trichothiodystrophy; Ichthyosis Linearis Circumflexa; Trichorrhexis Invaginata; Còmel-Netherton Syndrome): Congenital disorder manifesting with abnormal bamboo (brittle) hair, onychodystrophy, cataracts, mental retardation, photosensitivity, and ichthyosis.

  • Trichothiodystrophy (Amish Hair Brain Syndrome; Amish Brittle Hair Syndrome; Hair-Brain Syndrome; BIDS Syndrome [Brittle Hair and Nails, Intellectual Deficit, Decreased Fertility and Short Stature]; PIBIDS [Photosensitivity, Ichthyosis, Brittle Hair and Nails, Intellectual Deficit, Decreased Fertility and Short Stature]; IBIDS [Ichthyosis, Brittle Hair and Nails, Intellectual Deficit, Decreased Fertility and Short Stature]; Pollitt Syndrome): Inherited syndrome with mild psychomotor retardation, hypogonadism, short stature, and brittle hair.

Reference

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Calderon  R, Gonalez-Cantu ...

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