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Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323 EISSN: 0973-3922
Vol. 76, Num. 5, 2010, pp. 579-581

Indian Journal of Dermatology, Venereology, and Leprology, Vol. 76, No. 5, September-October, 2010, pp. 579-581

Letter to the Editor

Familial anterior cervical hypertrichosis

Department of Dermatology, Pontificia Universidad Católica de Chile, Chile

Correspondence Address:
Ximena P Echeverría
Av. Vicuña Mackenna 4686, San Joaquín, Santiago

Code Number: dv10177

DOI: 10.4103/0378-6323.69080


Hypertrichosis is a condition of excessive hair growth independent of associated underlying endocrine disorder. Primary hypertrichosis has been classified by the extent of distribution in localized or generalized forms. Primary localized hypertrichosis may occur as hypertrichosis cubiti (elbows), posterior cervical hypertrichosis, faun tail deformity, or anterior cervical hypertrichosis (ACH). ACH is a very rare form of primary localized hypertrichosis. It consists of a tuft of terminal hair on the anterior neck just above the laryngeal prominence. [1],[2] Familial ACH (FACH) is a variant of ACH and, as far as we know, only 18 cases of five families have been previously reported. [1] This condition has been described in association with other systemic disorders, but the concomitance with cutaneous disease has not reported. [3],[4] In this article we present the case of a family with three members affected and report the concomitance with new systemic diseases and morphea.

We report the case of a 56-year-old woman with history of diabetes mellitus, hypertension, and thrombocytopenia who was evaluated in our dermatology unit for pruritic hyperpigmented plaques with skin thickening on abdominal and lumbar areas [Figure - 1] and a congenital tuft of terminal hair on the anterior aspect of the neck. A skin biopsy from the abdomen and lumbar area was compatible with morphea. Laboratory tests showed liver function abnormalities and abdominal computed tomography scan showed portal hypertension and splenomegaly. These findings were compatible with chronic liver disease. Immuno-serologic tests were normal. Two of her three daughters also had the congenital patch of terminal hair on the anterior neck [Figure - 2]. One of them, a 27-year-old female with Down′s syndrome, presented dysesthesia of the hands and physical examination revealed overlapping of fourth over third toe of both feet [Figure - 3]. Another daughter, a 35-year-old female, with history of great vessel transposition, corrected when she was a new born, had a normal physical examination. No other abnormalities were detected. There was no history of consanguineous marriages in the family.

FACH can present as an isolated defect or in association with various abnormalities of other organ systems. [2],[3],[4],[5] Most of the families reported had not concomitant diseases. [2],[5] Trattner et al. described an Arab family with three affected relatives, all of them with peripherial neuropathy and hallux valgus, and one with atrophy of optic nerve and macular dysfunction. [3] Tsukahara et al. reported a Japanese family with seven members in three generations with ACH, one of them with Turner′s syndrome. [4] In our case, only dysesthesia was observed in the patient with Down′s syndrome. This patient also presented toes overlapping which was previously described in a child with sporadic ACH. [1] The concomitance of FACH with great vessel transposition, chronic liver disease, and morphea has never been described before. They are incidental associations, but we suggest a careful evaluation of ACH patients to exclude any systemic disease.


1.Monteagudo B, Cabanillas M, de las Heras C, Cacharrσn JM. Isolated anterior cervical hypertrichosis. Actas Dermosifiliogr 2009;100:61-4.  Back to cited text no. 1    
2.Nanda A, Al-Aradi I, Ali MT, Alsaleh QA. Anterior cervical hypertrichosis (hairy throat): Is it a sign to worry about? Clin Exp Dermatol 2007;32:112-4.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]
3.Trattner A, Hodak E, Sagie-Lerman T, David M, Nitzan M, Garty BZ. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy-a new syndrome? J Am Acad Dermatol 1991;25:767-70.  Back to cited text no. 3  [PUBMED]  
4.Tsukahara M, Kajii T. Hairy throat: A dominant trait affecting seven members of a family. Clin Dysmorphol 1992;1:165-7.   Back to cited text no. 4  [PUBMED]  
5.Lee HW, Lee MW, Choi JH, Moon KC, Koh JK. Familial anterior cervical hypertrichosis. J Am Acad Dermatol 2005;53:530-2.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]

Copyright 2010 - Indian Journal of Dermatology, Venereology, and Leprology

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