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Atypical scarring of skin

MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Synonym: Atypical scarring
 
HPO: HP:0000987

Definition

Atypically scarred skin . [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical scarring of skin

Conditions with this feature

Cutaneous porphyria
MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.
Brittle cornea syndrome 1
MedGen UID:
78661
Concept ID:
C0268344
Disease or Syndrome
Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea Syndrome Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the PRDM5 gene (614161) on chromosome 4q27.
Branchiooculofacial syndrome
MedGen UID:
91261
Concept ID:
C0376524
Disease or Syndrome
The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal.
Cockayne syndrome type 2
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Ehlers-Danlos syndrome, fibronectinemic type
MedGen UID:
346497
Concept ID:
C1857038
Disease or Syndrome
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.
Tricho-oculo-dermo-vertebral syndrome
MedGen UID:
355714
Concept ID:
C1866427
Disease or Syndrome
Ehlers-Danlos syndrome, periodontal type 2
MedGen UID:
934648
Concept ID:
C4310681
Disease or Syndrome
Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.
Acne inversa, familial, 1
MedGen UID:
1631104
Concept ID:
C4551962
Disease or Syndrome
Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000.
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
MedGen UID:
1675672
Concept ID:
C5193040
Disease or Syndrome
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).

Professional guidelines

PubMed

Kim JS, Ginter A, Ranjit-Reeves R, Woodward JA
Ophthalmic Plast Reconstr Surg 2021 Sep-Oct 01;37(5):450-456. doi: 10.1097/IOP.0000000000001902. PMID: 33481534
Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L
Clin Rev Allergy Immunol 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4. PMID: 28779299
Blumenfeld W, Egbert BM, Sagebiel RW
Arch Pathol Lab Med 1985 Feb;109(2):123-7. PMID: 2983633

Recent clinical studies

Etiology

Jackson TK, Sow Y, Ayoade KO, Seykora JT, Taylor SC, Ogunleye T
J Am Acad Dermatol 2023 Dec;89(6):1136-1140. Epub 2023 Jul 24 doi: 10.1016/j.jaad.2023.07.1011. PMID: 37495175
Crnarić I, Šitum M, Delaš Aždajić M, Vučić M, Buljan M
Acta Dermatovenerol Croat 2022 Sep;30(2):113-115. PMID: 36254545
Brockow K, Pfützner W
Curr Opin Allergy Clin Immunol 2019 Aug;19(4):308-318. doi: 10.1097/ACI.0000000000000548. PMID: 31135396
Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L
Clin Rev Allergy Immunol 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4. PMID: 28779299
Beauman JG
Am Fam Physician 2005 Oct 15;72(8):1527-34. PMID: 16273819

Diagnosis

Jackson TK, Sow Y, Ayoade KO, Seykora JT, Taylor SC, Ogunleye T
J Am Acad Dermatol 2023 Dec;89(6):1136-1140. Epub 2023 Jul 24 doi: 10.1016/j.jaad.2023.07.1011. PMID: 37495175
Brockow K, Pfützner W
Curr Opin Allergy Clin Immunol 2019 Aug;19(4):308-318. doi: 10.1097/ACI.0000000000000548. PMID: 31135396
Leverenz DL, Henderson C, Shah A
Curr Allergy Asthma Rep 2018 Jun 14;18(8):40. doi: 10.1007/s11882-018-0794-6. PMID: 29904803
Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L
Clin Rev Allergy Immunol 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4. PMID: 28779299
Beauman JG
Am Fam Physician 2005 Oct 15;72(8):1527-34. PMID: 16273819

Therapy

Kim JS, Ginter A, Ranjit-Reeves R, Woodward JA
Ophthalmic Plast Reconstr Surg 2021 Sep-Oct 01;37(5):450-456. doi: 10.1097/IOP.0000000000001902. PMID: 33481534
Leverenz DL, Henderson C, Shah A
Curr Allergy Asthma Rep 2018 Jun 14;18(8):40. doi: 10.1007/s11882-018-0794-6. PMID: 29904803
Vieira ML, Marques ERMC, Leda YLA, Noriega LF, Bet DL, Pereira GAAM
Lupus 2018 Apr;27(5):853-857. Epub 2017 Aug 31 doi: 10.1177/0961203317726377. PMID: 28857716
Park SM, Kim WJ, Mun JH, Kim HS, Ko HC, Kim BS, Kim MB, Song M
Int J Dermatol 2016 Jul;55(7):757-63. Epub 2015 Sep 4 doi: 10.1111/ijd.12914. PMID: 26341956
Beauman JG
Am Fam Physician 2005 Oct 15;72(8):1527-34. PMID: 16273819

Prognosis

Chuenboonngarm N, Puaratanaarunkon T, Washrawirul C, Triwatcharikorn J, Chancheewa B, Theerawattanawit C, Chongpison Y, Rerknimitr P, Klaewsongkram J
J Eur Acad Dermatol Venereol 2023 Sep;37(9):1881-1890. Epub 2023 May 27 doi: 10.1111/jdv.19222. PMID: 37212641
Crnarić I, Šitum M, Delaš Aždajić M, Vučić M, Buljan M
Acta Dermatovenerol Croat 2022 Sep;30(2):113-115. PMID: 36254545
Bazid HAS, Samaka RM, Mousa MEA, Seleit I
J Cosmet Dermatol 2022 Nov;21(11):6010-6020. Epub 2022 May 31 doi: 10.1111/jocd.15075. PMID: 35546288
Uihlein LC, Brandling-Bennett HA, Lio PA, Liang MG
Pediatr Dermatol 2012 Jan-Feb;29(1):38-44. Epub 2011 Oct 20 doi: 10.1111/j.1525-1470.2011.01534.x. PMID: 22011318
Beauman JG
Am Fam Physician 2005 Oct 15;72(8):1527-34. PMID: 16273819

Clinical prediction guides

Jackson TK, Sow Y, Ayoade KO, Seykora JT, Taylor SC, Ogunleye T
J Am Acad Dermatol 2023 Dec;89(6):1136-1140. Epub 2023 Jul 24 doi: 10.1016/j.jaad.2023.07.1011. PMID: 37495175
Chuenboonngarm N, Puaratanaarunkon T, Washrawirul C, Triwatcharikorn J, Chancheewa B, Theerawattanawit C, Chongpison Y, Rerknimitr P, Klaewsongkram J
J Eur Acad Dermatol Venereol 2023 Sep;37(9):1881-1890. Epub 2023 May 27 doi: 10.1111/jdv.19222. PMID: 37212641
Bazid HAS, Samaka RM, Mousa MEA, Seleit I
J Cosmet Dermatol 2022 Nov;21(11):6010-6020. Epub 2022 May 31 doi: 10.1111/jocd.15075. PMID: 35546288
Amber KT, Murrell DF, Schmidt E, Joly P, Borradori L
Clin Rev Allergy Immunol 2018 Feb;54(1):26-51. doi: 10.1007/s12016-017-8633-4. PMID: 28779299
Beauman JG
Am Fam Physician 2005 Oct 15;72(8):1527-34. PMID: 16273819

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