Anterior cervical hypertrichosis: A dominantly inherited isolated defect

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  • American Journal of Medical Genetics 55498-499 (1995)

    Anterior Cervical Hypertrichosis: A Dominantly Inherited Isolated Defect

    Stephen R. Braddock, Kenneth Lyons Jones, Lynne M. Bird, Isidro Villegas, and Marilyn C. Jones Division of Dysmorphology, Department of Pediatrics, University of California, Sun Diego, La Jolla (S.R.B., K.L.J.), Division of Dysmorphology and Genetics, Childrens Hospital, Sun Diego (L.M.B., M.C.J.), California, and Department of Pediatrics, Issetecali Hospital, n juana (I. VJ, Mexico

    We present a sporadic case of nonsyndromal anterior cervical hypertrichosis and review the literature. Based on prior documenta- tion of dominant inheritance it is suggested that this case may be the result of a fresh mutation associated with older paternal age. 0 1995 Wiley-Liss, Inc.

    KEY WORDS: hypertrichosis, anterior cer- vical, hairy throat, dominant

    INTRODUCTION Anterior cervical hypertrichosis with dominant in-

    heritance involving 7 individuals in 3 generations of a family was first reported by Tsukahara and Kajii [1992]. Here we report a sporadic, nonsyndromal case of anterior cervical hypertrichosis similar to those reported by Tsukahara and Kajii.

    CLINICAL REPORT The proposita was a 7-year-old Mexican girl who pre-

    sented due to parental concerns regarding her hairy neck. She was born to a then 25-year-old gravida 5 para 4 abortion 1 woman and 36-year-old man. There was no consanguinity. The parents, 2 older sisters, and a younger brother were all healthy and unaffected. The family history was noncontributory. She was delivered at 40 weeks gestation from a vertex position with a birth weight of 3000 g (25th centile). A patch of anterior cervical hair was noted at birth. Her medical history was normal except for a hospitalization for pneumonia at age 3 months.

    At age 7 years she had a height of 117.5 cm (10th cen- tile) and OFC 52 cm (50th-75th centile). She had a dark horizontal patch of hypertrichosis just above the laryngeal prominence (Fig. la and b). Although she

    Received for publication August 20, 1994; revision received September 9, 1994.

    Address reprint requests t o Kenneth Lyons Jones, M.D., Department of Pediatrics, University of California, San Diego, 200 West Arbor Drive, #8446, San Diego, CA 92103.

    0 1995 Wiley-Liss, Inc.

    also had a hoarse voice, both oropharyngeal exam and indirect laryngoscopy findings were normal. The re- mainder of the physical findings were unremarkable. Specifically neither thyromegaly nor cervical cysts were present. Developmentally she was doing average work in the first grade. Nerve conduction studies and electromyography were normal.

    DISCUSSION Hypertrichosis is defined as the presence of excessive

    terminal hair located in areas not normally covered with adult type hair. Hypertrichosis has been reported in several regions of the body including the ears, mid- phalanges, elbows, palms, and soles. A review of the lit- erature documented only 3 reports of anterior cervical hypertrichosis.

    Tsukahara and Kajii [19921 described a Japanese family with 7 affected members in 3 generations with anterior cervical hypertrichosis just cephalad to the laryngeal prominence. Several of these individuals re- peatedly shaved their necks due to this hair growth. The hair was first noted in these individuals after age 3 years. There were no other physical problems in their family except that the proposita also had the Ullrich- Turner syndrome 46X,i(Xq). The authors proposed dominant inheritance, either autosomal or X-linked.

    Trattner et al. [1991] described 3 individuals in 2 generations of an Arab family. The propositus was the product of a first cousin mating. He had a patch of long, fair, curly hair in the anterior cervical region. His mother and a paternal aunt also were affected. All 3 of these individuals had a peripheral neuropathy and bi- lateral hallux valgus as well. The hair had been present since the first year of life. The authors suggested auto- soma1 recessive inheritance. Similarly, Ardinger [ 19931 described a boy with anterior cervical hypertrichosis present since early infancy, developmental delay, and peripheral neuropathy.

    The case described herein represents the same con- dition which was published by Tsukahara and Kajii [19921. This appears to be a distinct and separate con- dition from that described by Trattner et al. [19911 and Ardinger I29931 in which both peripheral neuropathy and hallux valgus were also present. The variable age when the anterior cervical hypertrichosis was first

  • Anterior Cervical Hypertrichosis 499

    Fig. 1. (a) The proposita at age 7 years. Note the long hairs in the anterior cervical region extending toward the sides of the neck. (b) Lateral view showing long anterior cervical hairs.

    noted, at birth in the case herein described and after ACKNOWLEDGMENTS age 3 years in the cases described by Tsukahara and Kajii [19921, might reflect subjective biases of the fam- ilies recollection or be related to the color and thickness

    This work was supported in part by NIH Training Grant DK07318.

    of the hair itself. A unique finding in the present case was the hoarse voice. Despite the localization of the hypertrichosis to the area over the larynx, no structural or functional abnormalities could be found which would account for the abnormal quality of her voice.

    Based on the previous family with 7 affected mem- bers in 3 generations [Tsukahara and Kajii, 19921, the mode of inheritance of this disorder appears to be dom- inant, either X-linked or autosomal. The older paternal age in this case suggests a new dominant mutation.

    REFERENCES Ardinger HH (1993): Anterior cervical hypertrichosis versus hairy

    throat. Clin Dysmorph 2:18&187. Trattner A, Hodak E, Sagie-Lerman T, David M, Nitzan M, Garty BZ

    (1991): Familial congenital anterior cervical hypertrichosis associ- ated with peripheral sensory and motor neuropathy-A new syn- drome? J Am Acad Dermatol25:767-770.

    Tsukahara M, Kajii T (1992): Hairy throat: A dominant trait affecting seven members in a family. Clin Dysmorph 1:165-167.