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Absent hair

MedGen UID:
108274
Concept ID:
C0574763
Finding
Synonym: Hair absent
SNOMED CT: Hair absent (297991008)
 
HPO: HP:0002298

Term Hierarchy

Conditions with this feature

Keratosis follicularis-dwarfism-cerebral atrophy syndrome
MedGen UID:
374340
Concept ID:
C1839910
Disease or Syndrome
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
MedGen UID:
762105
Concept ID:
C3541517
Disease or Syndrome
Ectodermal dysplasia 9, hair/nail type
MedGen UID:
767041
Concept ID:
C3554127
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).

Professional guidelines

PubMed

Lizneva D, Gavrilova-Jordan L, Walker W, Azziz R
Best Pract Res Clin Obstet Gynaecol 2016 Nov;37:98-118. Epub 2016 May 19 doi: 10.1016/j.bpobgyn.2016.05.003. PMID: 27387253
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):302-14. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31409. PMID: 25169058
Castelo-Branco C, Cancelo MJ
Gynecol Endocrinol 2010 Jul;26(7):484-93. doi: 10.3109/09513591003686353. PMID: 20218823

Recent clinical studies

Etiology

Baskan Z, Yavuz I, Ulku R, Kaya S, Yavuz Y, Basaran G, Adiguzel O, Ozer T
Kaohsiung J Med Sci 2006 Apr;22(4):171-6. doi: 10.1016/S1607-551X(09)70303-1. PMID: 16679298
Yavuz I, Baskan Z, Ulku R, Dulgergil TC, Dari O, Ece A, Yavuz Y, Dari KO
Arch Med Res 2006 Apr;37(3):403-9. doi: 10.1016/j.arcmed.2005.06.016. PMID: 16513494
Ruiz-Maldonado R, Orozco-Covarrubias L, Ridaura-Sanz C, DurAn-McKinster C, Del Mar Sáez De Ocariz Gutiérrez M, Tamayo-Sánchez L
Br J Dermatol 2003 Jun;148(6):1253-7. doi: 10.1046/j.1365-2133.2003.05354.x. PMID: 12828758
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864
Bresäter LE, Welin L, Romanus B
Diabetes Res Clin Pract 1996 Apr;32(1-2):103-9. doi: 10.1016/0168-8227(96)01201-6. PMID: 8803488

Diagnosis

Anbouba GM, Carmany EP, Natoli JL
Am J Med Genet A 2020 Apr;182(4):831-841. Epub 2020 Jan 25 doi: 10.1002/ajmg.a.61493. PMID: 31981414
Suda N, Bazar A, Bold O, Jigjid B, Garidkhuu A, Ganburged G, Moriyama K
Orthod Craniofac Res 2010 May;13(2):114-7. doi: 10.1111/j.1601-6343.2010.01484.x. PMID: 20477971
Wong SN, Giam YC, Lee YS
Pediatr Dermatol 2002 May-Jun;19(3):250-5. doi: 10.1046/j.1525-1470.2002.00070.x. PMID: 12047647
Boyko EJ, Ahroni JH, Davignon D, Stensel V, Prigeon RL, Smith DG
J Clin Epidemiol 1997 Jun;50(6):659-68. doi: 10.1016/s0895-4356(97)00005-x. PMID: 9250264
Núñez M, Mirallles ES, Arrazola JM, Ledo A
Pediatr Dermatol 1996 Mar-Apr;13(2):143-5. doi: 10.1111/j.1525-1470.1996.tb01422.x. PMID: 9122073

Therapy

Gan EY, Gahat T, Cario-André M, Seneschal J, Ezzedine K, Taïeb A
Br J Dermatol 2016 Sep;175(3):555-60. Epub 2016 Aug 6 doi: 10.1111/bjd.14635. PMID: 27037527
Benoit T, Bacelieri R, Morrell DS, Metcalf J
Arch Dermatol 2010 Aug;146(8):871-4. doi: 10.1001/archdermatol.2010.175. PMID: 20713819
Bresäter LE, Welin L, Romanus B
Diabetes Res Clin Pract 1996 Apr;32(1-2):103-9. doi: 10.1016/0168-8227(96)01201-6. PMID: 8803488

Prognosis

Anbouba GM, Carmany EP, Natoli JL
Am J Med Genet A 2020 Apr;182(4):831-841. Epub 2020 Jan 25 doi: 10.1002/ajmg.a.61493. PMID: 31981414
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864
Boyko EJ, Ahroni JH, Davignon D, Stensel V, Prigeon RL, Smith DG
J Clin Epidemiol 1997 Jun;50(6):659-68. doi: 10.1016/s0895-4356(97)00005-x. PMID: 9250264
Núñez M, Mirallles ES, Arrazola JM, Ledo A
Pediatr Dermatol 1996 Mar-Apr;13(2):143-5. doi: 10.1111/j.1525-1470.1996.tb01422.x. PMID: 9122073

Clinical prediction guides

Gui B, Song Y, Hu X, Li H, Qin Z, Su J, Li C, Fan X, Li M, Luo J, Feng Y, Song L, Chen S, Gong C, Shen Y
Gene 2018 May 15;654:110-115. Epub 2018 Feb 17 doi: 10.1016/j.gene.2018.02.047. PMID: 29462647
Gan EY, Gahat T, Cario-André M, Seneschal J, Ezzedine K, Taïeb A
Br J Dermatol 2016 Sep;175(3):555-60. Epub 2016 Aug 6 doi: 10.1111/bjd.14635. PMID: 27037527
Naz G, Ali G, Naqvi SK, Azeem Z, Ahmad W
Hum Genet 2010 Apr;127(4):395-401. doi: 10.1007/s00439-009-0784-9. PMID: 20054564
Boyko EJ, Ahroni JH, Davignon D, Stensel V, Prigeon RL, Smith DG
J Clin Epidemiol 1997 Jun;50(6):659-68. doi: 10.1016/s0895-4356(97)00005-x. PMID: 9250264
Woodhouse NJ, Sakati NA
J Med Genet 1983 Jun;20(3):216-9. doi: 10.1136/jmg.20.3.216. PMID: 6876115Free PMC Article

Recent systematic reviews

Anbouba GM, Carmany EP, Natoli JL
Am J Med Genet A 2020 Apr;182(4):831-841. Epub 2020 Jan 25 doi: 10.1002/ajmg.a.61493. PMID: 31981414

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