Familial anterior cervical hypertrichosis
2005; Elsevier BV; Volume: 53; Issue: 3 Linguagem: Inglês
10.1016/j.jaad.2005.01.128
ISSN1097-6787
AutoresHae‐Woong Lee, Mi-Woo Lee, Jee‐Ho Choi, Kee‐Chan Moon, Jai‐Kyoung Koh,
Tópico(s)Ultrasonics and Acoustic Wave Propagation
ResumoTo the Editor: Anterior cervical hypertrichosis is a very rare form of primary localized hypertrichosis.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar To our knowledge, only 2 cases of familial anterior cervical hypertrichosis have been reported.2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar, 3Tsukahara M. Kajii T. Hairy throat: a dominant trait affecting seen members of a family.Clin Dysmorphol. 1992; 1: 165-167Crossref PubMed Google Scholar Here we describe a patient with anterior cervical hypertrichosis whose family history shows that 2 other individuals in 2 generations of her family had the same hypertrichosis localized to the anterior cervical region.A 28-year-old Korean female in otherwise good health presented with increased hair growth on her anterior neck. Her parents reported that this condition had been present since the proband was about 5 years old. There was no preceding event, such as local trauma, chronic inflammation, or topical use of corticosteroids or other medications. Physical examination showed excessive fine hairs on the skin of the anterior cervical area, just above the laryngeal prominence (Fig 1). The patient denied having any neurologic symptoms, such as dysesthesia or loss of muscular strength. Neurologic examination was normal, and there was no evidence of hallus valgus on either foot. Ophthalmologic examination showed mild myopia without optic nerve atrophy. A family history revealed that her aunt and one of her cousins had also had the same problem on their necks since childhood and that there was no consanguinity in the family (Fig 2). By telephone interview, both relatives informed us that they were otherwise healthy and that, during routine physical examinations by their family physicians, no neurologic or ophthalmologic abnormalities had been detected. On the basis of clinical presentation and family history, our patient was diagnosed with familial anterior cervical hypertrichosis. We recommended epilative laser therapy, but the patient refused.Fig 2Family pedigree.View Large Image Figure ViewerDownload (PPT)Primary hypertrichosis has been classified based on the age of onset as either congenital or acquired and on the extent of distribution as localized or generalized.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar Acquired localized hypertrichosis has been reported to occur in response to local trauma, chronic inflammation, cutaneous hyperemia, pretibial myxedema, peripheral neuropathy, or topical applications of medications, such as corticosteroids or minoxidil.2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar The spectrum of congenital localized hypertrichosis includes hypertrichosis cubiti, lumbosacral hypertrichosis, posterior cervical hypertrichosis, and anterior cervical hypertrichosis.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar, 2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar, 4Reed O.M. Mellette Jr., J.R. Fitzpatrick J.E. Familial cervical hypertrichosis with underlying kyphoscoliosis.J Am Acad Dermatol. 1989; 20: 1069-1072Abstract Full Text PDF PubMed Scopus (20) Google Scholar Among these entities, lumbosacral hypertrichosis, also known as “fawn tail,” is the most common and is frequently associated with underlying defects, such as diastematomyelia, meningocele, spina bifida, or kyphoscoliosis.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar In contrast, localized hypertrichosis occurring in sites other than the posterior midline has been rarely reported.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar, 2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar, 3Tsukahara M. Kajii T. Hairy throat: a dominant trait affecting seen members of a family.Clin Dysmorphol. 1992; 1: 165-167Crossref PubMed Google ScholarAnterior cervical hypertrichosis was first reported by Trattner et al2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar in 3 patients in 2 generations of an Arab family having consanguineous marriages. All 3 of these individuals had peripheral neuropathy and bilateral hallus valgus, and one showed bilateral optic nerve atrophy and macular dysfunction.5Garty B.Z. Snir M. Kremer I. Yassur Y. Trattner A. Retinal changes in familial peripheral sensory and motor neuropathy associated with anterior cervical hypertrichosis.J Pediatr Ophthalmol Strabismus. 1997; 34: 309-312PubMed Google Scholar These data suggested autosomal recessive inheritance. Tsukahara and Kajii3Tsukahara M. Kajii T. Hairy throat: a dominant trait affecting seen members of a family.Clin Dysmorphol. 1992; 1: 165-167Crossref PubMed Google Scholar described a Japanese family in which 7 affected members in 3 generations had hairy throats. There were no other medical problems in this family, except the proband had Turner syndrome. These results suggested dominant inheritance, either autosomal or X-linked. Sporadic cases without familial background have also been reported.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar, 6Ardinger H.H. Anterior cervical hypertrichosis versus hairy throat.Clin Dysmorphol. 1993; 2: 186-187Crossref PubMed Scopus (13) Google Scholar, 7Braddock S.R. Jones K.L. Bird L.M. Villegas I. Jones M.C. Anterior cervical hypertrichosis: a dominantly inherited isolated defect.Am J Med Genet. 1995; 55: 498-499Crossref PubMed Scopus (19) Google ScholarIn an examination of 11 patients with idiopathic hypertrichosis, three were shown to have nonfamilial anterior cervical hypertrichosis without associated abnormalities, and one of them was treated with chemical depilatory.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar Long-term removal of unwanted hair must be individualized as the degree of hypertrichosis and psychosocial needs. Current available hair removal methods include bleaching, trimming, tweezing, shaving, waxing, chemical depilatories, electrolysis, intense pulsed light therapy, and lasers, such as ruby, diode, neodymium-yttrium-aluminum garnet, and Alexandrite.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google ScholarOur case is distinct from earlier cases by Trattner et al2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar in that we observed no association between anterior cervical hypertrichosis and peripheral neuropathy, hallus valgus, or optic atrophy. Although the mode of inheritance of hypertrichosis in our patient is unclear, the appearance of this disorder in both male and female family members suggests an autosomal recessive pattern, although autosomal dominant inheritance with incomplete penetrance cannot be ruled out. Our findings indicate, however, that anterior cervical hypertrichosis can be detected as an isolated finding, regardless of whether it is sporadic or familial. To the Editor: Anterior cervical hypertrichosis is a very rare form of primary localized hypertrichosis.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar To our knowledge, only 2 cases of familial anterior cervical hypertrichosis have been reported.2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar, 3Tsukahara M. Kajii T. Hairy throat: a dominant trait affecting seen members of a family.Clin Dysmorphol. 1992; 1: 165-167Crossref PubMed Google Scholar Here we describe a patient with anterior cervical hypertrichosis whose family history shows that 2 other individuals in 2 generations of her family had the same hypertrichosis localized to the anterior cervical region. A 28-year-old Korean female in otherwise good health presented with increased hair growth on her anterior neck. Her parents reported that this condition had been present since the proband was about 5 years old. There was no preceding event, such as local trauma, chronic inflammation, or topical use of corticosteroids or other medications. Physical examination showed excessive fine hairs on the skin of the anterior cervical area, just above the laryngeal prominence (Fig 1). The patient denied having any neurologic symptoms, such as dysesthesia or loss of muscular strength. Neurologic examination was normal, and there was no evidence of hallus valgus on either foot. Ophthalmologic examination showed mild myopia without optic nerve atrophy. A family history revealed that her aunt and one of her cousins had also had the same problem on their necks since childhood and that there was no consanguinity in the family (Fig 2). By telephone interview, both relatives informed us that they were otherwise healthy and that, during routine physical examinations by their family physicians, no neurologic or ophthalmologic abnormalities had been detected. On the basis of clinical presentation and family history, our patient was diagnosed with familial anterior cervical hypertrichosis. We recommended epilative laser therapy, but the patient refused. Primary hypertrichosis has been classified based on the age of onset as either congenital or acquired and on the extent of distribution as localized or generalized.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar Acquired localized hypertrichosis has been reported to occur in response to local trauma, chronic inflammation, cutaneous hyperemia, pretibial myxedema, peripheral neuropathy, or topical applications of medications, such as corticosteroids or minoxidil.2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar The spectrum of congenital localized hypertrichosis includes hypertrichosis cubiti, lumbosacral hypertrichosis, posterior cervical hypertrichosis, and anterior cervical hypertrichosis.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar, 2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar, 4Reed O.M. Mellette Jr., J.R. Fitzpatrick J.E. Familial cervical hypertrichosis with underlying kyphoscoliosis.J Am Acad Dermatol. 1989; 20: 1069-1072Abstract Full Text PDF PubMed Scopus (20) Google Scholar Among these entities, lumbosacral hypertrichosis, also known as “fawn tail,” is the most common and is frequently associated with underlying defects, such as diastematomyelia, meningocele, spina bifida, or kyphoscoliosis.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar In contrast, localized hypertrichosis occurring in sites other than the posterior midline has been rarely reported.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar, 2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar, 3Tsukahara M. Kajii T. Hairy throat: a dominant trait affecting seen members of a family.Clin Dysmorphol. 1992; 1: 165-167Crossref PubMed Google Scholar Anterior cervical hypertrichosis was first reported by Trattner et al2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar in 3 patients in 2 generations of an Arab family having consanguineous marriages. All 3 of these individuals had peripheral neuropathy and bilateral hallus valgus, and one showed bilateral optic nerve atrophy and macular dysfunction.5Garty B.Z. Snir M. Kremer I. Yassur Y. Trattner A. Retinal changes in familial peripheral sensory and motor neuropathy associated with anterior cervical hypertrichosis.J Pediatr Ophthalmol Strabismus. 1997; 34: 309-312PubMed Google Scholar These data suggested autosomal recessive inheritance. Tsukahara and Kajii3Tsukahara M. Kajii T. Hairy throat: a dominant trait affecting seen members of a family.Clin Dysmorphol. 1992; 1: 165-167Crossref PubMed Google Scholar described a Japanese family in which 7 affected members in 3 generations had hairy throats. There were no other medical problems in this family, except the proband had Turner syndrome. These results suggested dominant inheritance, either autosomal or X-linked. Sporadic cases without familial background have also been reported.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar, 6Ardinger H.H. Anterior cervical hypertrichosis versus hairy throat.Clin Dysmorphol. 1993; 2: 186-187Crossref PubMed Scopus (13) Google Scholar, 7Braddock S.R. Jones K.L. Bird L.M. Villegas I. Jones M.C. Anterior cervical hypertrichosis: a dominantly inherited isolated defect.Am J Med Genet. 1995; 55: 498-499Crossref PubMed Scopus (19) Google Scholar In an examination of 11 patients with idiopathic hypertrichosis, three were shown to have nonfamilial anterior cervical hypertrichosis without associated abnormalities, and one of them was treated with chemical depilatory.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar Long-term removal of unwanted hair must be individualized as the degree of hypertrichosis and psychosocial needs. Current available hair removal methods include bleaching, trimming, tweezing, shaving, waxing, chemical depilatories, electrolysis, intense pulsed light therapy, and lasers, such as ruby, diode, neodymium-yttrium-aluminum garnet, and Alexandrite.1Vashi R.A. Mancini A.J. Paller A.S. Primary generalized and localized hypertrichosis in children.Arch Dermatol. 2001; 137: 877-884PubMed Google Scholar Our case is distinct from earlier cases by Trattner et al2Trattner A. Hodak E. Sagie-Lerman T. David M. Nitzan M. Garty B.Z. Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy—a new syndrome?.J Am Acad Dermatol. 1991; 25: 767-770Abstract Full Text PDF PubMed Scopus (33) Google Scholar in that we observed no association between anterior cervical hypertrichosis and peripheral neuropathy, hallus valgus, or optic atrophy. Although the mode of inheritance of hypertrichosis in our patient is unclear, the appearance of this disorder in both male and female family members suggests an autosomal recessive pattern, although autosomal dominant inheritance with incomplete penetrance cannot be ruled out. Our findings indicate, however, that anterior cervical hypertrichosis can be detected as an isolated finding, regardless of whether it is sporadic or familial.
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