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Keratosis pilaris atrophicans(KPA)

MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
Synonyms: ?Keratosis pilaris atrophicans; Burnett Schwartz Berberian syndrome; KPA
SNOMED CT: Keratosis pilaris atrophicans (400059005)
 
Gene (location): LRP1 (12q13.3)
 
Monarch Initiative: MONDO:0018855
OMIM®: 604093
Orphanet: ORPHA498

Definition

Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015). [from OMIM]

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Comedo
MedGen UID:
67447
Concept ID:
C0221228
Disease or Syndrome
A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Papule
MedGen UID:
507324
Concept ID:
C0332563
Finding
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Abnormal perifollicular morphology
MedGen UID:
1615717
Concept ID:
C4531226
Anatomical Abnormality
Any structural anomaly in the areas surrounding the hair follicles.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Abnormality of vision
MedGen UID:
871352
Concept ID:
C4025846
Finding
Abnormality of eyesight (visual perception).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKeratosis pilaris atrophicans

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029
Rodríguez-Lojo R, Pozo JD, Barja JM, Piñeyro F, Pérez-Varela L
J Cosmet Laser Ther 2010 Aug;12(4):188-90. doi: 10.3109/14764172.2010.502456. PMID: 20590370

Recent clinical studies

Etiology

Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Miranda BH, Farjo N, Farjo B
J Plast Reconstr Aesthet Surg 2011 Dec;64(12):e303-5. Epub 2011 Jul 2 doi: 10.1016/j.bjps.2011.06.009. PMID: 21723799
Rodríguez-Lojo R, Pozo JD, Barja JM, Piñeyro F, Pérez-Varela L
J Cosmet Laser Ther 2010 Aug;12(4):188-90. doi: 10.3109/14764172.2010.502456. PMID: 20590370
Callaway SR, Lesher JL Jr
Pediatr Dermatol 2004 Jan-Feb;21(1):14-7. doi: 10.1111/j.0736-8046.2004.21103.x. PMID: 14871319
Baden HP, Byers HR
Arch Dermatol 1994 Apr;130(4):469-75. PMID: 8166484

Diagnosis

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Hwang S, Schwartz RA
Cutis 2008 Sep;82(3):177-80. PMID: 18856156
Borradori L, Blanchet-Bardon C
J Am Acad Dermatol 1993 May;28(5 Pt 2):815-9. doi: 10.1016/0190-9622(93)70108-6. PMID: 8491871

Therapy

Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Khetarpal S, Sood A, Billings SD
Dermatol Online J 2016 Aug 15;22(8) PMID: 27617940
Alcántara González J, Boixeda P, Truchuelo Díez MT, Fleta Asín B
J Eur Acad Dermatol Venereol 2011 Jun;25(6):710-4. Epub 2010 Jun 21 doi: 10.1111/j.1468-3083.2010.03772.x. PMID: 20569297
Nico MM, Valente NY, Sotto MN
Pediatr Dermatol 1998 Jul-Aug;15(4):285-6. doi: 10.1046/j.1525-1470.1998.1998015285.x. PMID: 9720693

Prognosis

Marqueling AL, Gilliam AE, Prendiville J, Zvulunov A, Antaya RJ, Sugarman J, Pang ML, Lee P, Eichenfield L, Metz B, Goldberg GN, Phillips RJ, Frieden IJ
Arch Dermatol 2006 Dec;142(12):1611-6. doi: 10.1001/archderm.142.12.1611. PMID: 17178988
Manci EA, Martinez JE, Horenstein MG, Gardner TM, Ahmed A, Mancao MC, Gremse DA, Gardner DM, Nimityongskul P, Maertens P, Riddick L, Kavamura MI
Am J Med Genet A 2005 Aug 15;137(1):1-8. doi: 10.1002/ajmg.a.30834. PMID: 16007634
Khumalo NP, Loo WJ, Hollowood K, Salvary I, Graham RM, Dawber RP
J Eur Acad Dermatol Venereol 2002 Jul;16(4):397-400. doi: 10.1046/j.1468-3083.2002.00472.x. PMID: 12224702

Clinical prediction guides

Rodríguez-Lojo R, Pozo JD, Barja JM, Piñeyro F, Pérez-Varela L
J Cosmet Laser Ther 2010 Aug;12(4):188-90. doi: 10.3109/14764172.2010.502456. PMID: 20590370
Marqueling AL, Gilliam AE, Prendiville J, Zvulunov A, Antaya RJ, Sugarman J, Pang ML, Lee P, Eichenfield L, Metz B, Goldberg GN, Phillips RJ, Frieden IJ
Arch Dermatol 2006 Dec;142(12):1611-6. doi: 10.1001/archderm.142.12.1611. PMID: 17178988
Kalayciyan A, Kotogyan A, Demirkesen C, Tüzün Y
Int J Dermatol 2003 Jul;42(7):530-2. doi: 10.1046/j.1365-4362.2003.01781.x. PMID: 12839602
Clark SM, Mills CM, Lanigan SW
J Cutan Laser Ther 2000 Sep;2(3):151-6. doi: 10.1080/14628830050516416. PMID: 11360333
Baden HP, Byers HR
Arch Dermatol 1994 Apr;130(4):469-75. PMID: 8166484

Recent systematic reviews

Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029

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