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Abnormal skin adnexa morphology

MedGen UID:
869100
•Concept ID:
C4023518
•
Anatomical Abnormality
Synonyms: Abnormal skin appendage; Abnormality of skin adnexa morphology
 
HPO: HP:0011138

Definition

An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal skin adnexa morphology

Professional guidelines

PubMed

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Management of the marginal zone lymphomas.
Vannata B, Stathis A, Zucca E
Cancer Treat Res 2015;165:227-49. doi: 10.1007/978-3-319-13150-4_9. PMID: 25655612
Comparison of clinical and laboratory characteristics of cases with polycystic ovarian syndrome based on Rotterdam's criteria and women whose only clinical signs are oligo/anovulation or hirsutism.
Hassa H, Tanir HM, Yildiz Z
Arch Gynecol Obstet 2006 Jul;274(4):227-32. Epub 2006 May 12 doi: 10.1007/s00404-006-0173-8. PMID: 16691383

Recent clinical studies

Etiology

Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis.
Pihlamaa T, Suominen S, Kiuru-Enari S, Tanskanen M
Amyloid 2016 Dec;23(4):225-233. Epub 2016 Nov 23 doi: 10.1080/13506129.2016.1238355. PMID: 27879149
Long-term clinical and histological analysis of Integra dermal regeneration template.
Moiemen N, Yarrow J, Hodgson E, Constantinides J, Chipp E, Oakley H, Shale E, Freeth M
Plast Reconstr Surg 2011 Mar;127(3):1149-1154. doi: 10.1097/PRS.0b013e31820436e3. PMID: 21088647
Ocular involvement in children with localised scleroderma: a multi-centre study.
Zannin ME, Martini G, Athreya BH, Russo R, Higgins G, Vittadello F, Alpigiani MG, Alessio M, Paradisi M, Woo P, Zulian F; Juvenile Scleroderma Working Group of the Pediatric Rheumatology European Society (PRES)
Br J Ophthalmol 2007 Oct;91(10):1311-4. Epub 2007 May 2 doi: 10.1136/bjo.2007.116038. PMID: 17475707Free PMC Article
Nevus sebaceus of Jadassohn.
Terenzi V, Indrizzi E, Buonaccorsi S, Leonardi A, Pellacchia V, Fini G
J Craniofac Surg 2006 Nov;17(6):1234-9. doi: 10.1097/01.scs.0000221531.56529.cc. PMID: 17119437
Multiple recurrence of trisomy 21 Down syndrome.
Nielsen KG, Poulsen H, Mikkelsen M, Steuber E
Hum Genet 1988 Jan;78(1):103-5. doi: 10.1007/BF00291249. PMID: 2962924

Diagnosis

Subepidermal Calcinosis in the Ocular Adnexa: A Systematic Review.
Khine KT, Shi DS, Bernhisel A, Gertsch KR, Mamalis N, Patel BCK, Dutton JJ
Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):101-105. doi: 10.1097/IOP.0000000000000936. PMID: 28430707
Vellus Hair Cyst of the Orbit.
Choi R, MacLean KD, Davidson HC, Patel BCK
Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S89-S91. doi: 10.1097/IOP.0000000000000469. PMID: 25856335
Management of the marginal zone lymphomas.
Vannata B, Stathis A, Zucca E
Cancer Treat Res 2015;165:227-49. doi: 10.1007/978-3-319-13150-4_9. PMID: 25655612
Inherited ichthyoses: a review of the histology of the skin.
Scheimberg I, Harper JI, Malone M, Lake BD
Pediatr Pathol Lab Med 1996 May-Jun;16(3):359-78. doi: 10.1080/15513819609168677. PMID: 9025839
Ataxia-telangiectasia: some historic, clinical and pathologic observations.
Boder E
Birth Defects Orig Artic Ser 1975;11(1):255-70. PMID: 1096982

Therapy

Management of the marginal zone lymphomas.
Vannata B, Stathis A, Zucca E
Cancer Treat Res 2015;165:227-49. doi: 10.1007/978-3-319-13150-4_9. PMID: 25655612
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A
Ophthalmology 2005 Feb;112(2):e1-6. doi: 10.1016/j.ophtha.2004.07.034. PMID: 15691545
Genotoxic effects of sunlight-activated waste water in cultured mammalian cells.
Strniste GF, Chen DJ, Okinaka RT
J Natl Cancer Inst 1982 Jul;69(1):199-203. PMID: 6954312

Prognosis

Squamous cell carcinoma with perineural involvement in nevus sebaceus.
Locke ST, Schaffenburg WC, Breedlove JP, Davis Ii DW, Bowden Iii LP, Royer MC
Cutis 2019 Apr;103(4):E17-E19. PMID: 31116824
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Long-term clinical and histological analysis of Integra dermal regeneration template.
Moiemen N, Yarrow J, Hodgson E, Constantinides J, Chipp E, Oakley H, Shale E, Freeth M
Plast Reconstr Surg 2011 Mar;127(3):1149-1154. doi: 10.1097/PRS.0b013e31820436e3. PMID: 21088647
Michelin tire baby syndrome--a case report and literature review.
Farooqi GA, Mulla SA, Ahmad M
J Pak Med Assoc 2010 Sep;60(9):777-9. PMID: 21381593
Ovarian pathology associated with insulin resistance and acanthosis nigricans.
Annos T, Taymor ML
Obstet Gynecol 1981 Nov;58(5):662-4. PMID: 7301247

Clinical prediction guides

A cavernous hemangioma of infundibulopelvic vessels presenting as an adnexal tumor: A rare case report and literature review.
Ma H, Tang H, Chen Q, Zheng W, Tan X
Medicine (Baltimore) 2022 Aug 19;101(33):e30113. doi: 10.1097/MD.0000000000030113. PMID: 35984186Free PMC Article
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Long-term clinical and histological analysis of Integra dermal regeneration template.
Moiemen N, Yarrow J, Hodgson E, Constantinides J, Chipp E, Oakley H, Shale E, Freeth M
Plast Reconstr Surg 2011 Mar;127(3):1149-1154. doi: 10.1097/PRS.0b013e31820436e3. PMID: 21088647
Psoriasin (S100A7) expression is altered during skin tumorigenesis.
Alowami S, Qing G, Emberley E, Snell L, Watson PH
BMC Dermatol 2003 Feb 24;3:1. doi: 10.1186/1471-5945-3-1. PMID: 12600274Free PMC Article
Ataxia-telangiectasia: some historic, clinical and pathologic observations.
Boder E
Birth Defects Orig Artic Ser 1975;11(1):255-70. PMID: 1096982

Recent systematic reviews

Subepidermal Calcinosis in the Ocular Adnexa: A Systematic Review.
Khine KT, Shi DS, Bernhisel A, Gertsch KR, Mamalis N, Patel BCK, Dutton JJ
Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):101-105. doi: 10.1097/IOP.0000000000000936. PMID: 28430707

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