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Malignant atrophic papulosis

MedGen UID:
113138
•Concept ID:
C0221011
•
Disease or Syndrome
Synonyms: Degos disease; Degos syndrome; Degos's malignant atrophic papulosis; Kohlmeier-Degos disease
SNOMED CT: Malignant atrophic papulosis (400171002); Erythrokeratoderma en cocardes (Degos syndrome) (239062001); Maladie de Degos (239062001); Erythrokeratoderma en cocarde (Degos) (239062001); Degos' disease (400171002); Kohlmeier-Degos syndrome (400171002); Lethal cutaneous and gastrointestinal arteriolar thrombosis (400171002); MAP - malignant atrophic papulosis (400171002); Malignant atrophic papulosis of Degos (400171002); Erythrokeratoderma en cocardes (239062001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011208
OMIM®: 602248
Orphanet: ORPHA679

Definition

Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. [from ORDO]

Clinical features

From HPO
Stroke disorder
MedGen UID:
52522
•Concept ID:
C0038454
•
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
See: Feature record | Search on this feature
Gastrointestinal hemorrhage
MedGen UID:
8971
•Concept ID:
C0017181
•
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
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Gastrointestinal infarctions
MedGen UID:
463581
•Concept ID:
C3152231
•
Finding
See: Feature record | Search on this feature
Pleural effusion
MedGen UID:
10805
•Concept ID:
C0032227
•
Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
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Constrictive pericarditis
MedGen UID:
18378
•Concept ID:
C0031048
•
Disease or Syndrome
Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.
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Abnormal conjunctiva morphology
MedGen UID:
871353
•Concept ID:
C4025847
•
Anatomical Abnormality
An abnormality of the conjunctiva.
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
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMalignant atrophic papulosis
Follow this link to review classifications for Malignant atrophic papulosis in Orphanet.

Recent clinical studies

Etiology

Atrophic papulosis (Köhlmeier-Degos disease) in children and adolescents-A cross-sectional study and literature review.
Zouboulis CC, Kaleta KP, Broniatowska E, Jarienė V, Nikolakis G
J Eur Acad Dermatol Venereol 2023 Apr;37(4):810-816. Epub 2023 Jan 14 doi: 10.1111/jdv.18844. PMID: 36606530
Inflammation and thrombo-occlusive vessel signalling in benign atrophic papulosis (Köhlmeier-Degos disease).
Zouboulis CC, Theodoridis A, Makrantonaki E
J Eur Acad Dermatol Venereol 2022 Nov;36(11):2195-2198. Epub 2022 Jul 8 doi: 10.1111/jdv.18362. PMID: 35748122
Congenital Degos Disease: Case Report and Dermoscopic Findings.
Calderón-Castrat X, Castro R, Peceros-Escalante J, Villate Caballero M, Chian C, Ballona R
Pediatr Dermatol 2017 May;34(3):e109-e115. Epub 2017 Mar 20 doi: 10.1111/pde.13096. PMID: 28317162
Malignant and benign forms of atrophic papulosis (Köhlmeier-Degos disease): systemic involvement determines the prognosis.
Theodoridis A, Konstantinidou A, Makrantonaki E, Zouboulis CC
Br J Dermatol 2014 Jan;170(1):110-5. doi: 10.1111/bjd.12642. PMID: 24116834
Mesenteric infarction.
Kairaluoma MI, Karkola P, Heikkinen D, Huttunen R, Mokka RE, Larmi TK
Am J Surg 1977 Feb;133(2):188-93. doi: 10.1016/0002-9610(77)90078-2. PMID: 835791

Diagnosis

Atrophic papulosis (Köhlmeier-Degos disease) in children and adolescents-A cross-sectional study and literature review.
Zouboulis CC, Kaleta KP, Broniatowska E, Jarienė V, Nikolakis G
J Eur Acad Dermatol Venereol 2023 Apr;37(4):810-816. Epub 2023 Jan 14 doi: 10.1111/jdv.18844. PMID: 36606530
Atrophic Papulosis.
Robert M, Hot A
Dermatology 2023;239(2):177-187. Epub 2022 Nov 9 doi: 10.1159/000526789. PMID: 36353773
Neurological Involvement in Malignant Atrophic Papulosis: A Comprehensive Review of Literature.
Yousefi S, Borhani-Haghighi A, Safari A, Shapiro L
Neurol India 2022 Jan-Feb;70(1):5-10. doi: 10.4103/0028-3886.338719. PMID: 35263846
Malignant Atrophic Papulosis.
Mareschal A, Razanamahery J, Aubin F
JAMA Dermatol 2020 Feb 1;156(2):204. doi: 10.1001/jamadermatol.2019.3726. PMID: 31799991
Malignant atrophic papulosis.
Scheinfeld N
Clin Exp Dermatol 2007 Sep;32(5):483-7. doi: 10.1111/j.1365-2230.2007.02497.x. PMID: 17692056

Therapy

Malignant Atrophic Papulosis Presenting with Intestinal Perforation: A Case Report.
Paudel A, Bhurtel MR, Gautam A, Gautam A, Bista M, Singh P
JNMA J Nepal Med Assoc 2023 Jun 1;61(262):549-551. doi: 10.31729/jnma.8192. PMID: 37464847Free PMC Article
Pediatric Malignant Atrophic Papulosis.
Huang YC, Wang JD, Lee FY, Fu LS
Pediatrics 2018 Apr;141(Suppl 5):S481-S484. doi: 10.1542/peds.2016-4206. PMID: 29610176
Malignant atrophic papulosis with motor aphasia and intestinal perforation: A case report and review of published works.
Hu P, Mao Z, Liu C, Hu X, Kang H, Zhou F
J Dermatol 2018 Jun;45(6):723-726. Epub 2018 Mar 8 doi: 10.1111/1346-8138.14280. PMID: 29516548Free PMC Article
Malignant atrophic papulosis (Köhlmeier-Degos disease) - a review.
Theodoridis A, Makrantonaki E, Zouboulis CC
Orphanet J Rare Dis 2013 Jan 14;8:10. doi: 10.1186/1750-1172-8-10. PMID: 23316694Free PMC Article
Malignant atrophic papulosis.
Degos R
Br J Dermatol 1979 Jan;100(1):21-35. doi: 10.1111/j.1365-2133.1979.tb03566.x. PMID: 371654

Prognosis

Atrophic Papulosis.
Robert M, Hot A
Dermatology 2023;239(2):177-187. Epub 2022 Nov 9 doi: 10.1159/000526789. PMID: 36353773
Neurological Involvement in Malignant Atrophic Papulosis: A Comprehensive Review of Literature.
Yousefi S, Borhani-Haghighi A, Safari A, Shapiro L
Neurol India 2022 Jan-Feb;70(1):5-10. doi: 10.4103/0028-3886.338719. PMID: 35263846
Pediatric Malignant Atrophic Papulosis.
Huang YC, Wang JD, Lee FY, Fu LS
Pediatrics 2018 Apr;141(Suppl 5):S481-S484. doi: 10.1542/peds.2016-4206. PMID: 29610176
Malignant atrophic papulosis.
Scheinfeld N
Clin Exp Dermatol 2007 Sep;32(5):483-7. doi: 10.1111/j.1365-2230.2007.02497.x. PMID: 17692056
Malignant atrophic papulosis.
Degos R
Br J Dermatol 1979 Jan;100(1):21-35. doi: 10.1111/j.1365-2133.1979.tb03566.x. PMID: 371654

Clinical prediction guides

A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
de Oliveira ASLE, de Siqueira RC, Nait-Meddour C, Tricarico PM, Moura R, Agrelli A, d'Adamo AP, Jamain S, Crovella S, de Fátima Medeiros Brito M, Boniotto M, Brandão LAC
Exp Dermatol 2023 Nov;32(11):1935-1945. Epub 2023 Sep 4 doi: 10.1111/exd.14919. PMID: 37665193
Clinical and laboratory prognosticators of atrophic papulosis (Degos disease): a systematic review.
Lu JD, Sachdeva M, Silverberg OM, Shapiro L, Croitoru D, Levy R
Orphanet J Rare Dis 2021 May 6;16(1):203. doi: 10.1186/s13023-021-01819-z. PMID: 33957947Free PMC Article
The effects of Eculizumab on the pathology of malignant atrophic papulosis.
Magro CM, Wang X, Garrett-Bakelman F, Laurence J, Shapiro LS, DeSancho MT
Orphanet J Rare Dis 2013 Nov 26;8:185. doi: 10.1186/1750-1172-8-185. PMID: 24279613Free PMC Article
Possible involvement of SDF-1/CXCL12 in the pathogenesis of Degos disease.
Meephansan J, Komine M, Hosoda S, Tsuda H, Karakawa M, Murata S, Demitsu T, Ohtsuki M
J Am Acad Dermatol 2013 Jan;68(1):138-43. Epub 2012 Aug 27 doi: 10.1016/j.jaad.2012.06.031. PMID: 22951280
Clinical and histologic findings in Degos' syndrome (malignant atrophic papulosis).
Su WP, Schroeter AL, Lee DA, Hsu T, Muller SA
Cutis 1985 Feb;35(2):131-8. PMID: 3884281

Recent systematic reviews

Clinical and laboratory prognosticators of atrophic papulosis (Degos disease): a systematic review.
Lu JD, Sachdeva M, Silverberg OM, Shapiro L, Croitoru D, Levy R
Orphanet J Rare Dis 2021 May 6;16(1):203. doi: 10.1186/s13023-021-01819-z. PMID: 33957947Free PMC Article
Clinical manifestations and treatment outcomes in degos disease: a systematic review.
Kim PJ, Lytvyn Y, Kashetsky N, Bagit A, Mufti A, Yeung J
J Eur Acad Dermatol Venereol 2021 Aug;35(8):1655-1669. Epub 2021 May 16 doi: 10.1111/jdv.17311. PMID: 33914972

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