Abstract
Many human genetic defects involve hair growth. How can they be categorized? In the past, the various phenotypes have been tentatively classified according to their morphology and to associated cutaneous or extracutaneous anomalies. For obvious reasons, however, a purely morphological classification is unsatisfactory, and a classification according to the underlying gene mutation remains the ultimate goal. In this chapter an attempt is made to categorize genetic hair disorders according to their mode of inheritance.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
Baraitser M, Carter CO, Brett EM (1983) A new alopecia/mental retardation syndrome. J Med Genet 20:64–75
Basan M (1965) Ektodermale Dysplasie, fehlendes Papillarmuster, Nagelveränderungen und Vierfingerfurche. Arch Klin Exp Dermatol 222:546–557
Baughman FA (1971) CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. Birth Defects 7/8:100–102
Bentley-Phillips B, Grace HJ (1979) Hereditary hypotrichosis A previously undescribed syndrome. Br J Dermatol 101:331–339
Beighton P (1970) Congenital hypertrichosis lanuginosa. Arch Dermatol 101:669–672
Beutler E, Yeh M, Fairbanks VF (1962) The normal human female as a mosaic of X-chromosome activity: studies using the gene for glucose-6-phosphate dehydrogenase deficiency as a marker. Proc Natl Acad Sci USA 48:9–16
Birke G (1954) Über Atrichia congenita und ihren Erbgang. Arch Dermatol Syph 197:322
Blanchet-Bardon C (1987) BIDS syndrome: prenatal diagnosis. 2nd congress of the European Society for Pediatric Dermatology, Bari, 2–4 Oct 1987
Blaschko A (1901) Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Beilage zu den Verhandlungen der Deutschen Dermatologischen Gesellschaft, VII. Congress zu Breslau, Mai 1901. Braumüller, Vienna
Bonafé JL, Larrègue M, Nougué J, Lamon P (1979) Association “dysplasie ectodermique-division palatine-cheveux-chiendent„ Sa place dans les syndromes dysmorphiques à type de „D.E.F." (dysplasie ectodermique, fente labiale et/ou palatine). Ann Dermatol Venereol 106:989–993
Burket JM, Burket BJ, Burket DA (1984) Eyelid cysts, hypodontia, and hypotrichosis. J Am Acad Dermatol 10:922–925
Cantú JM, Arias J, Foncerrada M et al. (1975) Syndrome of onychotricho-dysplasia with chronic neutropenia in an infant from consanguineous parents. Birth Defects 11/2:63–66
Cantú JM, Sánchez-Corona J, González-Mendoza A et al. (1980) Autosomal recessive inheritance of atrichia congenita. Clin Genet 17:209–212
Carney RG (1976) Incontinentia pigmenti. A world statistical analysis. Arch Dermatol 112:535–542
Cattanach BM, Wolfe HG, Lyon MF (1972) A comparative study of the coats of chimaeric mice and those of heterozygotes for X-linked genes. Genet Res 19:213–228
Cirillo Silengo M, Davi GF, Bianco R et al. (1982) Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. Clin Genet 21:297–300
Clarke A, Phillips DIM, Brown R, Harper PS (1987) Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 62:989–998
Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433–339
Coupe RL, Lowry RB (1970) Abnormality of the hair in cartilage-hair hypoplasia. Dermatologica 141:329–334
Crovato F, Rebora A (1985) PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system. J Am Acad Dermatol 13:683–685
Damsté TJ, Prakken JR (1954) Atrichia with papular lesions: a variant of congenital ectodermal dysplasia. Dermatologica 108:114–121
Delleman JW, Oorthuys JWE, Bleeker-Wagemakers EM et al. (1984) Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity. Clin Genet 25:470–472
Deol MS, Whitten WK (1972) X-chromosome inactivation: does it occur at the same time in all cells of the embryo? Nature [New Biol] 240:277–279
Dupré A, Bonafé JL, Carrière JP (1979) The hair in acrodermatitis enteropathica — a disease indicator? Acta Derm Venereol (Stockh) 59:59–60
Ellis J, Dawber RPR (1980) Ectodermal dysplasia syndrome: a family study. Clin Exp Dermatol 5:295–304
Falls HF, Schull WJ (1960) Hallermann-Streiff syndrome A dyscephaly with congenital cataracts and hypotrichosis. Arch Ophthalmol 63:409–420
Felgenhauer RW (1969) Hypertrichosis lanuginosa universalis. J Genet Hum 17:1–44
Felgenhauer RW, Farquet M, Ferrier PE (1972) Syndrome oro-facio-digital de Papillon-Léage et Psaume (syndrome OFD). Arch Genet 45:65–87
Freire Maia N, Pinheiro M (1984) Ectodermal dysplasias: a clinical and genetic study. Liss, New York
Frieder IJ (1986) Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 14:646–660
Gartier SM, Gandini E, Angioni G, Argiolas N (1969) Glucose-6-phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells. Ann Hum Genet 33:171–176
Gartier SM, Gandini E, Hutchison HT, Campbell B, Zechi G (1971) Glucose-6-phosphate dehydrogenase mosaicism: utilization in the study of hair follicle variegation. Ann Hum Genet 35:1–7
Giansanti JS, Long SM, Rankin JL (1974) The “tooth and nail” type of autosomal dominant ectodermal dysplasia. Oral Surg Oral Med Oral Pathol 37:576–582
Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V (1973) Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta 28:249–259
Goltz RW, Henderson RR, Hitch JM, Ott JE (1970) Focal dermal hypoplasia syndrome A review of the literature and report of two cases. Arch Dermatol 101:1–11
Goto M, Tanimoto K, Koriuchi Y, Sasazuki T (1981) Family analysis of Werner’s syndrome: a survey of 42 Japanese families with a review of the literature. Clin Genet 19:8–15
Grimm T, Wienker TF, Ropers HH (1976) Fabry’s disease: heterozygote detection by hair root analysis. Hum Genet 32:329–334
Grob JJ, Laure M, Berge G et al. (1988) Les signes cutanés du syndrome de Noonan A propos d’une observation avec ulérythème ophryogène, kératose pilaire et sudorale disséminée et alopécie progressive. Ann Dermatol Venereol 115:303–310
Hall EH, Terezhalmy GT (1983) Focal dermal hypoplasia syndrome. J Am Acad Dermatol 9:443–451
Handa F (1965) Congenital porphyria. Arch Dermatol 91:130–135
Happle R (1979) X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 53:65–73
Happle R (1985) Lyonization and the lines of Blaschko. Hum Genet 70:200–206
Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899–906
Happle R, Frosch PJ (1985) Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. Clin Genet 27:468–471
Happle R, Rampen FHJ (1987) Multiple eyelid hidrocystoma syndrome: a new cancer syndrome? In: Wilkinson DS, Mascaró JM, Orfanos CE (eds) Clinical dermatology. World congress of dermatology, Berlin (West), May 24–29,1987. Schattauer, Stuttgart, pp 290–291
Happle R, Koch H, Lenz W (1980) The CHILD syndrome Congenital hemidysplasia with ich-thyosiform erythroderma and limb defects. Eur J Pediatr 134:27–33
Happle R, Fuhrmann-Rieger A, Fuhrmann W (1984a) Wie verlaufen die Blaschko-Linien am behaarten Kopf? Hautarzt 35:366–369
Happle R, Traupe H, Grobe H, Bonsmann G (1984b) The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr 141:147–152
Hassing JH, Doeglas HMG (1980) Dystrophia bullosa hereditaria, typus maculatus (Mendes da Costa-van der Valk): a rare genodermatosis. Br J Dermatol 102:474–476
Hay RJ, Wells RS (1976) The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Br J Dermatol 94:277–289
Hernández A, Olivares F, Cantú JM (1979) Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Delineation of the syndrome. Clin Genet 15:147–152
Hoehn H, Bryant EM, Au K et al. (1975) Variegated translocation mosaicism in human skin fibroblast cultures. Cytogenet Cell Genet 15:282–298
Jackson CE, Callies QC, Krull EA, Mehregan A (1975) Hairy cutaneous malformations of palms and soles. Arch Dermatol 111:1146–1149
Jester HG (1977) Lymphedema-distichiasis. A rare hereditary syndrome. Hum Genet 39:113–116
Jones KL, Smith DW, Harvey MAS, Hall BD, Quan L (1975) Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr 86:84–88
Kanzler MH, Rasmussen JE (1986) Atrichia with papular lesions. Arch Dermatol 122:565–567
Kuokkanen K (1971) Keratosis follicularis spinulosa decalvans in a family from northern Finland. Acta Derm Venereol (Stockh) 51:146–150
Küster W, Happle R (1984) The inheritance of common baldness: two B or not two B? J Am Acad Dermatol 11:921–926
Küster W, Traupe H (1988) Klinik und Genetik angeborener Hautdefekte. Hautarzt 39:553–563
Küster W, Majewski F, Meinecke P (1985) EEC syndrome without ectrodactyly? Report of 8 cases. Clin Genet 28:130–135
Langer LO, Krassikoff N, Laxova R et al. (1984) The tricho-rhinophalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature. Am J Med Genet 19:81–111
Larrègue M, Buriot D, Prigent F, Lorette G, Marié M, Degos R (1981) Les cheveux argentés chez l’enfant Symptôme d’appel des maladies leucogranulocytaires et mélanocytaires. Ann Dermatol Venereol 108:329–340
LeCoulant P, Texier L, Tamisier JM, Caubet P (1967) Atrophodermie folliculaire, kystes épider-miques et hypotrichose. Bull Soc Fr Dermatol Syphiligr 74:502–504
Lenz W (1961) Zur Genetik der Incontinentia pigmenti. Ann Paediatr 196:149–165
Lichtenstein JR, Warson RW, Jorgenson RJ, McKusick VA (1972) The tricho-dento-osseous syndrome. Am J Hum Genet 24:569–582
Loewenthal LJA, Prakken JR (1961) Atrichia with papular lesions. Dermatologica 122:85–89
Ludwig E (1953) Hypotrichosis congenita hereditaria Typ M. Unna. Arch Dermatol Syph 196:261–278
Lundbäck H (1944) Total congenital hereditary alopecia. Acta Derm Venereol (Stockh) 25:189
Lyon MF (1961) Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372–373
Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135–148
Macias-Flores MA, Garcia-Cruz D, Rivera H et al. (1984) A new form of hypertrichosis inherited as an X-linked dominant trait. Hum Genet 66:66–70
McKusick VA (1988) Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 8th edn. Johns Hopkins University Press, Baltimore
Meinecke P, Engelbrecht R, Schaefer E (1986) Coffin-Siris-Syndrom bei einem 5jährigen Mädchen. Monatsschr Kinderheilkd 134:692–695
Mendes da Costa, van der Valk J (1908) Typus maculatus der bullösen hereditären Dystrophie. Arch Dermatol Syph 91:1–8
Meyer JC (1979) Das Haar als diagnostisches Hilfsmittel zur Ermittlung von Heterozygoten bei X-chromosomal vererbten Krankheiten. Zentralbl Haut Geschlechtskr 142:231–235
Mintz B (1967) Gene control of mammalian pigmentary differentiation. I. Clonal origin of melanocytes. Proc Natl Acad Sci USA 58:344–351
Moulin G, Barrut D, Franc MP, Fauchet R (1982) CHILD syndrome. Naevus épidermique et hémidysplasie corporelle hypoplasique homolatérale. Ann Dermatol Venereol 109:793–794
Moyer DB, Marquis P, Shertzer ME, Buron BK (1982) Cockayne syndrome with early onset of manifestations. Am J Med Genet 13:225–230
Moynahan EJ (1962) Familial congenital alopecia, mental retardation with unusual electroencephalograms. Proc R Soc Med 55:441–412
Neild VA, Pegum JS, Wells RS (1984) The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan’s syndrome. Br J Dermatol 110:357–362
Oliver GL, MacFarlane DC (1965) Congenital trichomegaly. Arch Ophthalmol 74:169–171
Opitz JM (1985) The Brachmann-de Lange syndrome. Am J Med Genet 22:89–102
Passarge E, Nuzum CT, Schubert WK (1966) Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. Humangenetik 3:181–185
Patel HP, Unis ME (1985) Pili torti in association with citrullinemia. J Am Acad Dermatol 12:203–206
Penchaszadeh VB, de Negrotti TC (1976) Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. J Med Genet 13:281–284
Petersen H (1915) Kongenitale familiäre hereditäre Alopezie auf der Basis eines Hypothyreoidis-mus. Dermatol Z 22:202–208
Pfeiffer RA, Verbeck C (1973) Spalthand und Spaltfuß, ektodermale Dysplasie und Lippen-Kiefer-Gaumen-Spalte: ein autosomal-dominant vererbtes Syndrom. Z Kinderheilkd 115:235–244
Plosila M, Kiistala R, Niemi KM (1981) The Bazex syndrome: follicular atrophoderma with multiple basal cell carcinomas, hypotrichosis and hypohidrosis. Clin Exp Dermatol 6:31–41
Porter PS, Lobitz WC (1970) Human hair: a genetic marker. Br J Dermatol 83:225–241
Rajagopalan K, Tay CH (1977) Hidrotic ectodermal dysplasia. Arch Dermatol 113:481–185
Rapp RS, Hodgkin WE (1968) Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. J Med Genet 5:269–272
Rüdiger RA, Haase W, Passarge E (1970) Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 120:160–163
Schnitzler ML (1973) Dysembryoplasie pilaire circonscrite des paumes: un cas familial. Bull Soc Fr Dermatol Syphiligr 80:323–324
Schöpf E, Schulz HJ, Passarge E (1971) Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects 7/8:219–221
Schwanitz HJ, Echternacht-Happle K, Happle R (1982) Distichiasis-Lymphödem-Syndrom Aktuel Dermatol 8:225–227
Spiegel J, Colton A (1985) AEC syndrome: ankyloblepharon, ectodermal defects, and cleft lip and palate. J Am Acad Dermatol 12:810–815
Spiegl B, Hundeiker M (1979) Hypotrichosis congenita hereditaria Autosomal dominante generalisierte. Hypotrichose mit Pili torti Hypotrichosis congenita hereditaria Marie Unna. Fortschr Med 97:2018–2022
Taylor WB (1957) Rothmund’s syndrome — Thomson’s syndrome. Arch Dermatol 75:236–244
Telfer MA, Sugar M, Jaeger EA, Mulcahy J (1971) Dominant piebald trait (white forelock and leukoderma) with neurological impairment. Am J Hum Genet 23:383–389
Toribio J, Quinones PA (1974) Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. Br J Dermatol 92:687–696
Toriello HV, Lindstrom JA, Waterman DF, Baughman FA (1979) Re-evaluation of CHANDS. J Med Genet 16:316–317
Traupe H, Happle R (1983) Alopecia ichthyotica. A characteristic feature of congenital ichthyosis. Dermatologica 167:225–230
Traupe H, Happle R, Grobe H, Bertram HP (1986) Polarization microscopy of hair in acrodermatitis enteropathica. Pediatr Dermatol 3:300–303
Trevas Maciel A (1988) Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford). Am J Med Genet 31:483–487
Unna M (1925) Über Hypotrichosis congenita hereditaria. Dermatol Wochenschr 81:1167–1178
Voigtländer V (1979) Pili torti with deafness (Björnstad syndrome). Report of a family. Dermatologica 159:50–54
Wannarachue N, Hall BD, Smith DW (1972) Ectodermal dysplasia and multiple defects (Rapp-Hodgkin type) . J Pediatr 81:1217–1218
Zaun H, Stenger D, Zabransky S, Zankl M (1984) Das Syndrom der langen Wimpern („Trichomegaliesyndrom“, Oliver-McFarlane). Hautarzt 35:162–165
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1990 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Happle, R. (1990). Genetic Defects Involving the Hair. In: Orfanos, C.E., Happle, R. (eds) Hair and Hair Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-74612-3_14
Download citation
DOI: https://doi.org/10.1007/978-3-642-74612-3_14
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-74614-7
Online ISBN: 978-3-642-74612-3
eBook Packages: Springer Book Archive