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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.
See: Feature record | Search on this feature
Sparse eyebrow
MedGen UID:
371332
•Concept ID:
C1832446
•
Finding
Decreased density/number of eyebrow hairs.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Absent eyelashes
MedGen UID:
334299
•Concept ID:
C1843005
•
Congenital Abnormality
Lack of eyelashes.
See: Feature record | Search on this feature
Abnormal perifollicular morphology
MedGen UID:
1615717
•Concept ID:
C4531226
•
Anatomical Abnormality
Any structural anomaly in the areas surrounding the hair follicles.
See: Feature record | Search on this feature
Epiphora
MedGen UID:
57518
•Concept ID:
C0152227
•
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
See: Feature record | Search on this feature
Abnormality of vision
MedGen UID:
871352
•Concept ID:
C4025846
•
Finding
Abnormality of eyesight (visual perception).
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

Keratosis pilaris: an update and approach to management.
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
Treatment of keratosis pilaris and its variants: a systematic review.
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
Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients.
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

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
Klar J, Schuster J, Khan TN, Jameel M, Mäbert K, Forsberg L, Baig SA, Baig SM, Dahl N
J Med Genet 2015 Sep;52(9):599-606. Epub 2015 Jul 3 doi: 10.1136/jmedgenet-2014-102931. PMID: 26142438
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients.
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
Keratosis pilaris atrophicans: case series and review.
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
Keratosis pilaris atrophicans in mother and daughter.
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

Diagnosis

Keratosis pilaris: an update and approach to management.
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
Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.
Liakou AI, Esteves de Carvalho AV, Nazarenko LP
J Dermatol 2014 May;41(5):371-6. doi: 10.1111/1346-8138.12442. PMID: 24801913
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans.
Luria RB, Conologue T
Cutis 2009 Feb;83(2):83-6. PMID: 19326693
Keratosis pilaris: a common follicular hyperkeratosis.
Hwang S, Schwartz RA
Cutis 2008 Sep;82(3):177-80. PMID: 18856156

Therapy

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Nilontinib induced keratosis pilaris atrophicans.
Khetarpal S, Sood A, Billings SD
Dermatol Online J 2016 Aug 15;22(8) PMID: 27617940
Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases.
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
Folliculitis ulerythematosa reticulata (atrophoderma vermiculata): early detection of a case with unilateral lesions.
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

Keratosis pilaris rubra: a common but underrecognized condition.
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
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.
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
Keratosis pilaris atrophicans in mother and daughter.
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

Keratosis pilaris atrophicans: treatment with intense pulsed light in four patients.
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
Keratosis pilaris rubra: a common but underrecognized condition.
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
Familial atrophia maculosa varioliformis cutis.
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
Treatment of keratosis pilaris atrophicans with the pulsed tunable dye laser.
Clark SM, Mills CM, Lanigan SW
J Cutan Laser Ther 2000 Sep;2(3):151-6. doi: 10.1080/14628830050516416. PMID: 11360333
Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans.
Baden HP, Byers HR
Arch Dermatol 1994 Apr;130(4):469-75. PMID: 8166484

Recent systematic reviews

Treatment of keratosis pilaris and its variants: a systematic review.
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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