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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).
 
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
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

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

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
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
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

Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
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
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
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
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

Hajare SA, Gavali S, Mukhi J, Singh RP
Dermatol Online J 2020 Apr 15;26(4) PMID: 32621683
Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
Yip L, Horev L, Sinclair R, Zlotogorski A
Acta Derm Venereol 2008;88(4):346-9. doi: 10.2340/00015555-0466. PMID: 18709303
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
Misciali C, Tosti A, Fanti PA, Borrello P, Piraccini BM
Dermatology 1992;185(4):284-8. doi: 10.1159/000247470. PMID: 1477424

Prognosis

Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
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
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
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

Arif T, Adil M, Amin SS
Acta Dermatovenerol Alp Pannonica Adriat 2018 Mar;27(1):35-36. PMID: 29589644
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
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
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
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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