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Anterior Cervical Hypertrichosis: a Case Report and Review of the Literature Bridget E

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Anterior Cervical Hypertrichosis: a Case Report and Review of the Literature Bridget E Anterior Cervical Hypertrichosis: A Case Report and Review of the Literature Bridget E. McIlwee DO,* Patrick J. Keehan, DO,** *Dermatology Resident, OGME-3, University of North Texas Health Science Center/TCOM, Fort Worth, TX **Faculty, Dermatology Residency, University of North Texas Health Science Center/TCOM, Fort Worth, TX; Clinical Director and Dermatologist, Premier Dermatology, Fort Worth, TX Abstract Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis. It typically arises sporadically and is often an isolated finding. However, familial cases of ACH have been reported in association with other aberrations including skeletal abnormalities, sensory and motor neuropathies, mental retardation, and developmental delay. We present the case of a 5-year-old female with ACH in the absence of any family history of localized hypertrichosis and without any other mental or physical abnormalities. Introduction Discussion though other systemic associations and rare cases Forms of localized hypertrichosis may occur of underlying anterior bony deformities have Unlike hirsutism, which is an excess growth of also been reported.4 Both anterior and posterior terminal hair in androgen-dependent areas such congenitally or as acquired conditions. Acquired forms of localized hypertrichosis have been localized hypertrichosis may also occur without as the face, chest, or back, hypertrichosis is an other associated conditions. increased density of hair growth in body areas reported to arise after topical medications, that are not androgen-dependent. Hypertrichosis such as corticosteroids, androgenic hormones, Anterior cervical hypertrichosis (ACH) – also 1 methoxsalen, diphenylhydantoin, and called ‘hairy throat’ – is a form of hypertrichosis may occur in generalized or localized forms. 2,3 Here, we discuss a localized form of the condition minoxidil. Localized hypertrichosis may also in which there is terminal-hair growth on the arise in the settings of local trauma, cutaneous known as anterior cervical hypertrichosis, or anterior midline neck, superior to the laryngeal hyperemia, peripheral neuropathy, chronic ACH. Though localized hypertrichoses may prominence. ACH may occur in a familial inflammation, or pretibial myxedema.4 Localized occur sporadically and in isolation, some forms or sporadic fashion. There have been several hypertrichosis most commonly occurs in the have been reported in association with significant reported cases of familial anterior cervical sacral area (“fawn tail”), but it may also occur in 4,5,13,14 skeletal and neurologic abnormalities. Given the hypertrichosis. In one case report of a lumbar, thoracic, or cervical areas along posterior potential for morbidity, a diagnosis of ACH or any consanguineous family with three members midline.5,6 More rarely, anterior midline cases other form of localized hypertrichosis warrants a affected by anterior cervical hypertrichosis, all of localized hypertrichosis have been reported. complete physical exam and additional studies as three individuals also had peripheral sensory Cases of localized hypertrichosis have also been neuropathy and bilateral hallux varus, two had indicated to rule out associated neurological and 7-11 reported on the palms, soles, and elbows. subclinical motor neuropathy, and one had optic skeletal abnormalities. 15 Especially when these areas of localized nerve atrophy as well as macular degeneration. hypertrichosis are found along the posterior These associated conditions would suggest an Case Report midline, they are often associated with underlying autosomal-recessive pattern of inheritance. A 5-year-old white female presented to the clinic However, another case report of anterior cervical as a new patient with complaints of hair growth. defects such as spina bifida, meningocele, scoliosis, or other bony or neurologic malformations. hypertrichosis discussed a family in which there Her parents noted that at approximately 3 years were seven affected members, comprising three of age, the patient began to grow a patch of hair When localized hypertrichosis is associated with underlying skeletal or neurologic abnormalities, generations. The only other health problem found on the anterior neck. The hair was light brown in within the family was Turner syndrome, which color and had not changed in appearance since many can be surgically corrected; and some, like diastematomyelia, can cause permanent would seem to suggest an autosomal-dominant they first noticed it. However, the hair continued 14 functional damage if not corrected with due pattern of inheritance. In yet another case to grow longer. The parents had not pursued any 12 report of familial anterior cervical hypertrichosis, treatment other than trimming the hair regularly. haste. When localized hypertrichosis occurs in an anterior distribution, it has most commonly three family members were affected. One of the The patient did have eczema, but her health been associated with generalized neuropathy, family members had mild myopia, while the history was otherwise unremarkable. There was no other two had no other medical problems. There family history of unusual or localized hair growth. Figure 1 Figure 2 There was no family history of neuropathies, skeletal abnormalities, or learning disabilities. On physical exam, the patient had a 1.5 cm patch of light brown, terminal hair growing on the anterior neck, superior to the laryngeal prominence (Figures 1, 2). There was no nevus or pigment underlying the patch of hair. There were no other patches of ectopic hair growth noted on thorough physical exam. Aside from a banal eczematous plaque on the right posterior knee, the remainder of her examination – including gross skeletal, motor and sensory exams – was unremarkable. We therefore diagnosed her with anterior cervical hypertrichosis. Page 24 ANTERIOR CERVICAL HYPERTRICHOSIS: A CASE REPORT AND REVIEW OF THE LITERATURE was no consanguinity within the family.14 forms of hypertrichosis seem more compatible family. Clin Dysmorphol. 1992;1:165-7. with a homeotic gene alteration resulting in Sporadic cases of anterior cervical hypertrichosis 27,28 14. Lee HW, Lee MW, Choi JH, Moon KC, Koh 6,16,17 ectopic terminal-hair growth. However, this have also been reported. In cases of sporadic JK. Familial anterior cervical hypertrichosis. J Am phenotypic change has not been substantiated in anterior cervical hypertrichosis, the majority of 19 Acad Dermatol. 2005;53(3):530-2. patients reported have had no other associated mouse models of Hox gene alterations. 15. Garty BZ, Snir M, Kremer I, Yassur Y, Trattner anomalies or medical conditions.6,17 However, In the absence of associated abnormalities, A. Retinal changes in familial peripheral sensory some sporadic cases of ACH have been reported ACH is primarily of cosmetic concern to the and motor neuropathy associated with anterior in association with diffuse weakness and patients and their families. Treatments are those cervical hypertrichosis. J Pediatr Ophthalmol developmental delay;16 posterior hypertrichosis, commonly utilized to treat unwanted hair on Strabismus. 1997;34:309-12. moderate mental retardation, abnormal EEG, other areas of the body, including trimming, microcephaly, and hallux varus;18 and posterior waxing, bleaching, electrolysis, and IPL.2,24 16. Ardinger HH. Anterior cervical hypertrichosis hypertrichosis, moderate mental retardation, versus hairy throat. Clin Dysmorphol. 19 dysmorphic facies, and hyperopia. Conclusion 1993;2:186-7. In early 2015, Megna et al. assessed the 40 cases of It is thought that ACH is vastly underreported. 17. Braddock SR, Jones KL, Bird LM, Villegas ACH that have been published to date. Twenty- Our report represents a sporadic case of ACH in I, Jones MC. Anterior cervical hypertrichosis: a seven of the published cases were familial (67.5%), a patient without any other systemic disorders, dominantly inherited isolated defect. Am J Med and 13 were sporadic (32.5%). Literature review but we wish to publish it to raise awareness of Genet. 1995;55:498-9. reveals that females are more often affected with ACH and its most common associations, some of 18. Corona-Rivera JR, Gonzalez-Abarca S, ACH than males (75% of reported cases). In the which are serious and may be treated effectively if Hernandez-Rocha J, Garcia-Cruz D, Corona- vast majority of cases, ACH presents as a solitary recognized promptly. Rivera A. Mental retardation in a boy with defect (77.5% of reported cases). In the 22.5% anterior cervical hypertrichosis. Am J Med Genet of reported cases in which ACH was associated References A. 2005;135:69–71. with other abnormalities, the most common were 1. Olsen EA. Hypertrichosis. In: Olsen EA, peripheral sensory and motor neuropathy (55% of 19. Thienpont B, Vermeesch J, Devriendt K. ed. Disorders of hair growth: diagnosis and Anterior cervical hypertrichosis and mental cases) followed by mental retardation (22%) and treatment, 2nd ed. New York: McGraw-Hill, developmental delay (22%).20 retardation. Clin Dysmorphol. 2006;15(3):189- 2003:399–430. 90. Four out of seven reported cases (57%) of familial 2. Heitink MV, Quaedvlieg PJ, Van neer FJ, 20. Megna M, Balato N, Patruno C, Ayala F. ACH have been associated with other systemic Frank J. Sporadic nonsyndromal anterior cervical abnormalities. Three of 10 cases (30%) of sporadic Anterior cervical hypertrichosis: a case report hypertrichosis: case report and review of the and review of the literature. Pediatr Dermatol. ACH have had other associated systemic
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