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Atrichia with papular lesions(APL)

MedGen UID:
395299
•Concept ID:
C1859592
•
Disease or Syndrome
Synonyms: APL; Papular Atrichia
SNOMED CT: Atrichia with papular lesions (715963002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): HR (8p21.3)
 
Monarch Initiative: MONDO:0008847
OMIM®: 209500
Orphanet: ORPHA86819

Definition

Atricia with papular lesions (APL) is characterized by hair loss soon after birth and the development, years later, of a diffuse papular rash over the entire skin surface. The papular rash distinguishes it from alopecia universalis (203655) (summary by Sprecher et al., 1999). [from OMIM]

Clinical features

From HPO
Generalized papillary lesions
MedGen UID:
870420
•Concept ID:
C4024865
•
Finding
See: Feature record | Search on this feature
Sparse hair
MedGen UID:
1790211
•Concept ID:
C5551005
•
Finding
Reduced density of hairs.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtrichia with papular lesions
Follow this link to review classifications for Atrichia with papular lesions in Orphanet.

Professional guidelines

PubMed

Atrichia with papular lesions: a differential diagnosis of alopecia universalis not to be missed.
Ibrahim A, Buket Basmanav F, Bohelay G, Lévy A, Betz RC, Caux F
J Eur Acad Dermatol Venereol 2021 Nov;35(11):e801-e803. Epub 2021 Jul 12 doi: 10.1111/jdv.17479. PMID: 34169584
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

Recent clinical studies

Etiology

Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia.
Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study.
Bergman R, Schein-Goldshmid R, Hochberg Z, Ben-Izhak O, Sprecher E
Arch Dermatol 2005 Mar;141(3):343-51. doi: 10.1001/archderm.141.3.343. PMID: 15781675
Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions.
Indelman M, Bergman R, Lestringant GG, Peer G, Sprecher E
Br J Dermatol 2003 Mar;148(3):553-7. doi: 10.1046/j.1365-2133.2003.05177.x. PMID: 12653749
Evidence for pseudodominant inheritance of atrichia with papular lesions.
Zlotogorski A, Martinez-Mir A, Green J, Lamdagger H, Panteleyevdagger AA, Sinclair R, Christiano AM
J Invest Dermatol 2002 May;118(5):881-6. doi: 10.1046/j.1523-1747.2002.01740.x. PMID: 11982769
Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene.
Sprecher E, Shalata A, Dabhah K, Futerman B, Lin S, Szargel R, Bergman R, Friedman-Birnbaum R, Cohen N
J Am Acad Dermatol 2000 Jun;42(6):978-82. PMID: 10827399

Diagnosis

Congenital atrichia with papular lesions.
Hajare SA, Gavali S, Mukhi J, Singh RP
Dermatol Online J 2020 Apr 15;26(4) PMID: 32621683
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia.
Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria.
Yip L, Horev L, Sinclair R, Zlotogorski A
Acta Derm Venereol 2008;88(4):346-9. doi: 10.2340/00015555-0466. PMID: 18709303
Evidence for pseudodominant inheritance of atrichia with papular lesions.
Zlotogorski A, Martinez-Mir A, Green J, Lamdagger H, Panteleyevdagger AA, Sinclair R, Christiano AM
J Invest Dermatol 2002 May;118(5):881-6. doi: 10.1046/j.1523-1747.2002.01740.x. PMID: 11982769
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

Prognosis

Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia.
Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
Hairless is a histone H3K9 demethylase.
Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM
FASEB J 2014 Apr;28(4):1534-42. Epub 2013 Dec 13 doi: 10.1096/fj.13-237677. PMID: 24334705Free PMC Article
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study.
Bergman R, Schein-Goldshmid R, Hochberg Z, Ben-Izhak O, Sprecher E
Arch Dermatol 2005 Mar;141(3):343-51. doi: 10.1001/archderm.141.3.343. PMID: 15781675
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.
Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N
Am J Hum Genet 1999 May;64(5):1323-9. doi: 10.1086/302368. PMID: 10205263Free PMC Article

Clinical prediction guides

Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia.
Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
Hairless is a histone H3K9 demethylase.
Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM
FASEB J 2014 Apr;28(4):1534-42. Epub 2013 Dec 13 doi: 10.1096/fj.13-237677. PMID: 24334705Free PMC Article
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene.
Ahmad W, Ratterree MS, Panteleyev AA, Aita VM, Sundberg JP, Christiano AM
Lab Anim 2002 Jan;36(1):61-7. doi: 10.1258/0023677021911777. PMID: 11831740
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
Atrichia with papular lesions: electron microscopic observations of cystic lesions.
Nomura K, Hashimoto I, Takahashi G, Ito M
Am J Dermatopathol 2001 Jun;23(3):227-31. doi: 10.1097/00000372-200106000-00012. PMID: 11391105

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    • ClinVar
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      Clinical tests in GTR
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