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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

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

Thawabteh AM, Jibreen A, Karaman D, Thawabteh A, Karaman R
Molecules 2023 Jun 18;28(12) doi: 10.3390/molecules28124839. PMID: 37375394Free PMC Article
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
Saguil A, Kane S, Mercado M, Lauters R
Am Fam Physician 2017 Nov 15;96(10):656-663. PMID: 29431387

Recent clinical studies

Etiology

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free 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
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
Pediatr Dermatol 2019 Nov;36(6):937-938. doi: 10.1111/pde.14062. PMID: 31778553
Orlow SJ, Watsky KL, Bolognia JL
J Am Acad Dermatol 1991 Aug;25(2 Pt 1):205-21. doi: 10.1016/0190-9622(91)70185-5. PMID: 1918456

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
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
Kumar A, Kanojia RK, Saili A
Int J Dermatol 2014 Jul;53(7):789-97. Epub 2014 Apr 16 doi: 10.1111/ijd.12376. PMID: 24738724
Sedano HO, Gorlin RJ
Oral Surg Oral Med Oral Pathol 1989 May;67(5):555-63. doi: 10.1016/0030-4220(89)90272-7. PMID: 2654799

Therapy

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
Arnold WP
Clin Dermatol 1997 Sep-Oct;15(5):739-44. doi: 10.1016/s0738-081x(97)00018-7. PMID: 9313972

Prognosis

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
Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138
Pediatr Dermatol 2019 Nov;36(6):e106-e107. doi: 10.1111/pde.14063. PMID: 31778571
Adhisivam B, Mahadevan S
Indian J Pediatr 2006 Apr;73(4):359-60. doi: 10.1007/BF02825834. PMID: 16816500
Kotwal PP, Farooque M
J Bone Joint Surg Br 1998 Jul;80(4):651-3. doi: 10.1302/0301-620x.80b4.8489. PMID: 9699830

Clinical prediction guides

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135Free PMC Article
Kattapuram M, Briones N, Mancuso J
Pediatr Dermatol 2023 Jan;40(1):142-143. Epub 2022 Aug 29 doi: 10.1111/pde.15125. PMID: 36039501Free PMC Article
Lee B, Dean SM
Vasc Med 2019 Feb;24(1):89-90. Epub 2018 Nov 28 doi: 10.1177/1358863X18813444. PMID: 30482106
Tekin B, Yucelten D, Happle R
Acta Derm Venereol 2016 Feb;96(2):280-2. doi: 10.2340/00015555-2192. PMID: 26123086
Lodén M
Am J Clin Dermatol 2003;4(11):771-88. doi: 10.2165/00128071-200304110-00005. PMID: 14572299

Recent systematic reviews

Upadhyay PR, Seminario-Vidal L, Abe B, Ghobadi C, Sims JT
Cells 2023 Dec 8;12(24) doi: 10.3390/cells12242793. PMID: 38132113Free PMC Article
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
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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