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Abnormality of the integument

MedGen UID:
871273
Concept ID:
C4025761
Anatomical Abnormality
HPO: HP:0001574

Definition

An abnormality of the integument, which consists of the skin and the superficial fascia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the integument

Conditions with this feature

Multiple endocrine neoplasia, type 2a
MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Leukocyte adhesion deficiency type II
MedGen UID:
96022
Concept ID:
C0398739
Disease or Syndrome
Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920.
Absent thumb-short stature-immunodeficiency syndrome
MedGen UID:
338553
Concept ID:
C1848818
Disease or Syndrome
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Shenoy A, Madan R
J Drugs Dermatol 2020 Aug 1;19(8):763-768. doi: 10.36849/JDD.2020.4887. PMID: 32845587
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Saguil A, Kane S, Mercado M, Lauters R
Am Fam Physician 2017 Nov 15;96(10):656-663. PMID: 29431387

Recent clinical studies

Etiology

Lucky AW, Whalen J, Rowe S, Marathe KS, Gorell E
Neoreviews 2021 Jul;22(7):e438-e451. Epub 2021 Jul 1 doi: 10.1542/neo.22-7-e438. PMID: 34210808
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE
An Bras Dermatol 2020 Sep-Oct;95(5):551-569. Epub 2020 Jul 8 doi: 10.1016/j.abd.2020.05.001. PMID: 32732072Free PMC Article
Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE
Br J Dermatol 2020 Oct;183(4):614-627. Epub 2020 Mar 11 doi: 10.1111/bjd.18921. PMID: 32017015
Has C, He Y
Cell Tissue Res 2017 Jul;369(1):63-73. Epub 2017 Apr 22 doi: 10.1007/s00441-017-2623-y. PMID: 28432467

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
Tull TJ, Benton E
Clin Med (Lond) 2021 May;21(3):162-165. doi: 10.7861/clinmed.2021-0232. PMID: 34001564Free PMC Article
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128

Therapy

Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP
Nat Med 2022 Apr;28(4):780-788. Epub 2022 Mar 28 doi: 10.1038/s41591-022-01737-y. PMID: 35347281Free PMC Article
Shenoy A, Madan R
J Drugs Dermatol 2020 Aug 1;19(8):763-768. doi: 10.36849/JDD.2020.4887. PMID: 32845587
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Faulhaber FRS, Procianoy RS, Silveira RC
Am J Perinatol 2019 Feb;36(3):252-257. Epub 2018 Aug 6 doi: 10.1055/s-0038-1667379. PMID: 30081405
Lodén M
Am J Clin Dermatol 2003;4(11):771-88. doi: 10.2165/00128071-200304110-00005. PMID: 14572299

Prognosis

Lucky AW, Whalen J, Rowe S, Marathe KS, Gorell E
Neoreviews 2021 Jul;22(7):e438-e451. Epub 2021 Jul 1 doi: 10.1542/neo.22-7-e438. PMID: 34210808
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830
Dinneen AM, Dicken CH
J Am Acad Dermatol 1995 Jul;33(1):37-43. doi: 10.1016/0190-9622(95)90007-1. PMID: 7601944

Clinical prediction guides

Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
Danby SG, Andrew PV, Kay LJ, Pinnock A, Chittock J, Brown K, Williams SF, Cork MJ
Br J Dermatol 2022 May;186(5):875-886. Epub 2022 Apr 3 doi: 10.1111/bjd.20955. PMID: 34921679Free PMC Article
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A
Dermatol Clin 2018 Oct;36(4):421-430. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.009. PMID: 30201151
Peters MS, Lehman JS, Comfere NI
Am J Dermatopathol 2013 May;35(3):289-304; quiz 305-7. doi: 10.1097/DAD.0b013e318267caa3. PMID: 23598853
Lodén M
Am J Clin Dermatol 2003;4(11):771-88. doi: 10.2165/00128071-200304110-00005. PMID: 14572299

Recent systematic reviews

Kinoshita-Ise M, Sachdeva M
J Dermatol 2022 Jan;49(1):4-18. Epub 2021 Nov 22 doi: 10.1111/1346-8138.16233. PMID: 34806223
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
Williamson S, Merritt J, De Benedetto A
Br J Dermatol 2020 Jan;182(1):47-54. Epub 2019 Jul 28 doi: 10.1111/bjd.17896. PMID: 30895603
Spring LK, Krakowski AC, Alam M, Bhatia A, Brauer J, Cohen J, Del Rosso JQ, Diaz L, Dover J, Eichenfield LF, Gurtner GC, Hanke CW, Jahnke MN, Kelly KM, Khetarpal S, Kinney MA, Levy ML, Leyden J, Longaker MT, Munavalli GS, Ozog DM, Prather H, Shumaker PR, Tanzi E, Torres A, Velez MW, Waldman AB, Yan AC, Zaenglein AL
JAMA Dermatol 2017 Aug 1;153(8):802-809. doi: 10.1001/jamadermatol.2017.2077. PMID: 28658462
Layton AM, Eady EA, Whitehouse H, Del Rosso JQ, Fedorowicz Z, van Zuuren EJ
Am J Clin Dermatol 2017 Apr;18(2):169-191. doi: 10.1007/s40257-016-0245-x. PMID: 28155090Free PMC Article

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