Anterior cervical hypertrichosis with associated developmental delay and learning difficulties in two sisters

Chandrakumar, Arani; Martyn-Simmons, Claire

doi:10.1111/j.1346-8138.2012.01618.x

Cited by 5 publications

(5 citation statements)

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“…For the latter, the inheritance pattern is unknown, although some reported cases appear consistent with autosomal dominant or X‐linked dominant inheritance, whereas it is more likely that ACH associated with neuropathy is autosomal recessive . Only 40 cases of ACH have been reported in the literature . The age of presentation ranges from birth to early childhood (Table ).…”

Section: Discussionmentioning

confidence: 99%

Anterior Cervical Hypertrichosis: A Case Report and Review of the Literature

Megna

Balato

Patruno

et al. 2014

Pediatric Dermatology

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Anterior cervical hypertrichosis (ACH), or "hairy throat," is a rare form of localized hypertrichosis that refers to the presence of a tuft of terminal hair on the anterior neck. Only 40 cases of ACH have been reported in the literature. Although it is usually an isolated finding, it may be associated with systemic disorders such as neurologic abnormalities (peripheral neuropathy, developmental delay, mental retardation), ophthalmologic disorders (optic atrophy, chorioretinal changes), hallux valgus, and dorsal hypertrichosis. Thus it is strongly advised to take a thorough family history and to perform clinical examinations and investigations (neurologic and ophthalmologic examination, electromyography, X-ray of the feet) in all patients with ACH to exclude possible associated abnormalities. We report the case of a 7-year-old Italian girl who presented with this condition as an isolated finding.

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Section: Discussionmentioning

confidence: 99%

Anterior Cervical Hypertrichosis: A Case Report and Review of the Literature

Megna

Balato

Patruno

et al. 2014

Pediatric Dermatology

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show abstract

“…The majority of reports describe congenital or sporadic onset, but it may occur after local trauma . Familial cases raise the possibility of autosomal or X‐linked inheritance . Five cases of ACH have been reported in the setting of consanguineous families, and nearly half of all reported cases have been sporadic.…”

Section: What Is the Diagnosis?mentioning

confidence: 99%

“…4 Familial cases raise the possibility of autosomal or X-linked inheritance. 4,5 Five cases of ACH have been reported in the setting of consanguineous families, and nearly half of all reported cases have been sporadic. ACH has been reported more commonly in girls, but there is no clear sex predilection.…”

Section: Diagnosis: Anterior Cervical Hypertrichosismentioning

confidence: 99%

“…ACH has been reported more commonly in girls, but there is no clear sex predilection. 1,[3][4][5][6] Although ACH is an isolated finding in 77.5% of cases, neurologic associations have been reported in the literature. 1 Peripheral sensory or motor neuropathy, mental retardation, and developmental delay are the most commonly described.…”

Section: Diagnosis: Anterior Cervical Hypertrichosismentioning

confidence: 99%

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