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Alopecia, congenital(ALPC)

MedGen UID:: 78581
•Concept ID:: C0265992
•: Congenital Abnormality

Synonym:	Congenital alopecia X-linked
SNOMED CT:	Atrichia congenita (403798006); Nevoid congenital alopecia (2965006); Congenital alopecia (2965006); Congenital atrichosis (2965006)

Monarch Initiative:	MONDO:0010229
OMIM®:	300042

Definition

A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAlopecia
- Alopecia areata
  - CROGVAlopecia areata 1
  - CROGVAlopecia areata 2
- CROGVAlopecia universalis congenita
- CROGVAlopecia, androgenetic, 1
- CROGVAlopecia, androgenetic, 2
- CROGVAlopecia, androgenetic, 3
- CROGVAlopecia, congenital
- CROGVFamilial focal alopecia

Phenotypic abnormality
- Abnormality of the integument
  - Abnormal skin adnexa morphology
    - Abnormal hair morphology
      - Abnormal hair quantity
        Alopecia
        Alopecia, congenital

Professional guidelines

PubMed

Bachmann-Bupp syndrome and treatment.

Bachmann AS, VanSickle EA, Michael J, Vipond M, Bupp CP
Dev Med Child Neurol 2024 Apr;66(4):445-455. Epub 2023 Jul 19 doi: 10.1111/dmcn.15687. PMID: 37469105 Free PMC Article

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.

Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H
Eur J Med Genet 2023 Oct;66(10):104825. Epub 2023 Sep 1 doi: 10.1016/j.ejmg.2023.104825. PMID: 37659595

Diagnosis and management of alopecia in children.

Castelo-Soccio L
Pediatr Clin North Am 2014 Apr;61(2):427-42. Epub 2014 Jan 21 doi: 10.1016/j.pcl.2013.12.002. PMID: 24636654

See all (4)

Recent clinical studies

Etiology

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

Tziotzios C, Petridis C, Dand N, Ainali C, Saklatvala JR, Pullabhatla V, Onoufriadis A, Pramanik R, Baudry D, Lee SH, Wood K, Liu L, Seegobin S, Michelotti GA, Lwin SM, Christou EAA, Curtis CJ, de Rinaldis E, Saxena A, Holmes S, Harries M, Palamaras I, Cunningham F, Parkins G, Kaur M, Farrant P, McDonagh A, Messenger A, Jones J, Jolliffe V, Ali I, Ardern-Jones M, Mitchell C, Burrows N, Atkar R, Banfield C, Alexandroff A, Champagne C, Cooper HL, Vañó-Galván S, Molina-Ruiz AM, Perez NO, Patel GK, Macbeth A, Page M, Bryden A, Mowbray M, Wahie S, Armstrong K, Cooke N, Goodfield M, Man I, de Berker D, Dunnill G, Takwale A, Rao A, Siah TW, Sinclair R, Wade MS, Dlova NC, Setterfield J, Lewis F, Bhargava K, Kirkpatrick N, Estivill X, Stefanato CM, Flohr C, Spector T, Watt FM, Smith CH, Barker JN, Fenton DA, Simpson MA, McGrath JA
Nat Commun 2019 Mar 8;10(1):1150. doi: 10.1038/s41467-019-09117-w. PMID: 30850646 Free PMC Article

Alopecia in genetic diseases.

Calvieri S, Rossi A
G Ital Dermatol Venereol 2014 Feb;149(1):1-13. PMID: 24566562

Unraveling the molecular mechanisms of hair and nail genodermatoses.

Stratigos AJ, Baden HP
Arch Dermatol 2001 Nov;137(11):1465-71. doi: 10.1001/archderm.137.11.1465. PMID: 11708949

Molecular basis of congenital atrichia in humans and mice.

Ahmad W, Panteleyev A, Christiano AM
Cutis 1999 Oct;64(4):269-76. PMID: 10544884

Heritable disorders of hair.

Birnbaum PS, Baden HP
Dermatol Clin 1987 Jan;5(1):137-53. PMID: 3549074

See all (16)

Diagnosis

Congenital Hypotrichosis and Congenital Atrichia.

Al-Dawsari NA, Kaliyadan F
Skinmed 2018;16(1):27-32. Epub 2018 Feb 1 PMID: 29551108

Diagnosis and management of alopecia in children.

Castelo-Soccio L
Pediatr Clin North Am 2014 Apr;61(2):427-42. Epub 2014 Jan 21 doi: 10.1016/j.pcl.2013.12.002. PMID: 24636654

Hair loss in infancy.

Moreno-Romero JA, Grimalt R
G Ital Dermatol Venereol 2014 Feb;149(1):55-78. PMID: 24566566

Role of trichoscopy in children's scalp and hair disorders.

Lencastre A, Tosti A
Pediatr Dermatol 2013 Nov-Dec;30(6):674-82. Epub 2013 Aug 13 doi: 10.1111/pde.12173. PMID: 23937326

Congenital atrichia and hypotrichosis.

Bennàssar A, Ferrando J, Grimalt R
World J Pediatr 2011 May;7(2):111-7. Epub 2011 May 15 doi: 10.1007/s12519-011-0262-z. PMID: 21574026

See all (43)

Therapy

Clinical and trichoscopic characteristics of temporal triangular alopecia: A multicenter study.

Fernández-Crehuet P, Vaño-Galván S, Martorell-Calatayud A, Arias-Santiago S, Grimalt R, Camacho-Martínez FM
J Am Acad Dermatol 2016 Sep;75(3):634-637. doi: 10.1016/j.jaad.2016.04.053. PMID: 27543220

Leptomeningeal angiomatosis accompanied by hair follicle nevus.

Okada Y, Hamano K, Iwasaki N, Iijima S, Anno I
Childs Nerv Syst 1998 Apr-May;14(4-5):218-21. doi: 10.1007/s003810050215. PMID: 9660127

Congenital triangular alopecia.

Armstrong DK, Burrows D
Pediatr Dermatol 1996 Sep-Oct;13(5):394-6. doi: 10.1111/j.1525-1470.1996.tb00708.x. PMID: 8893240

Use of the temporary soft-tissue expander in posttraumatic alopecia.

Leighton WD, Johnson ML, Friedland JA
Plast Reconstr Surg 1986 May;77(5):737-43. doi: 10.1097/00006534-198605000-00006. PMID: 3703997

See all (4)

Prognosis

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G
Ital J Pediatr 2022 Aug 13;48(1):145. doi: 10.1186/s13052-022-01336-0. PMID: 35964051 Free PMC Article

Resource utilization and quality of life associated with congenital ichthyoses.

Kamalpour L, Gammon B, Chen KH, Veledar E, Pavlis M, Rice ZP, Chen SC
Pediatr Dermatol 2011 Sep-Oct;28(5):512-8. Epub 2011 Sep 5 doi: 10.1111/j.1525-1470.2011.01432.x. PMID: 21895756

The use of micrografts and minigrafts in the aesthetic reconstruction of the face and scalp.

Barrera A
Plast Reconstr Surg 2003 Sep;112(3):883-90. doi: 10.1097/01.PRS.0000072253.54359.7F. PMID: 12960872

Molecular basis of congenital atrichia in humans and mice.

Ahmad W, Panteleyev A, Christiano AM
Cutis 1999 Oct;64(4):269-76. PMID: 10544884

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA
Am J Med Genet 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. PMID: 9714442

See all (14)

Clinical prediction guides

Resource utilization and quality of life associated with congenital ichthyoses.

Kamalpour L, Gammon B, Chen KH, Veledar E, Pavlis M, Rice ZP, Chen SC
Pediatr Dermatol 2011 Sep-Oct;28(5):512-8. Epub 2011 Sep 5 doi: 10.1111/j.1525-1470.2011.01432.x. PMID: 21895756

Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.

Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM
J Invest Dermatol 2002 May;118(5):887-90. doi: 10.1046/j.1523-1747.2001.01767.x. PMID: 11982770

Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.

Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM
J Invest Dermatol 2001 Dec;117(6):1662-5. doi: 10.1046/j.0022-202x.2001.01618.x. PMID: 11886538

Unraveling the molecular mechanisms of hair and nail genodermatoses.

Stratigos AJ, Baden HP
Arch Dermatol 2001 Nov;137(11):1465-71. doi: 10.1001/archderm.137.11.1465. PMID: 11708949

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

See all (21)