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Abnormality of skin adnexa physiology

MedGen UID:
1369574
•Concept ID:
C4476685
•
Anatomical Abnormality
HPO: HP:0025276

Definition

Any functional anomaly 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]

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
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

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM
Eur J Hum Genet 2022 Jul;30(7):841-847. Epub 2022 Apr 6 doi: 10.1038/s41431-022-01097-8. PMID: 35388185Free PMC Article
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
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
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

Diagnosis

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM
Eur J Hum Genet 2022 Jul;30(7):841-847. Epub 2022 Apr 6 doi: 10.1038/s41431-022-01097-8. PMID: 35388185Free PMC Article
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
Acne: endocrinologic aspects.
Pochi PE
Cutis 1982 Aug;30(2):212-4, 216-7, 219 passim. PMID: 6215213
Ataxia-telangiectasia: some historic, clinical and pathologic observations.
Boder E
Birth Defects Orig Artic Ser 1975;11(1):255-70. PMID: 1096982

Therapy

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
Acne: endocrinologic aspects.
Pochi PE
Cutis 1982 Aug;30(2):212-4, 216-7, 219 passim. PMID: 6215213
Hirsutism: a disorder frequently associated with menstrual abnormalities.
Ismail AA, Loraine JA
Clin Obstet Gynecol 1969 Sep;12(3):800-27. doi: 10.1097/00003081-196909000-00017. PMID: 5347233

Prognosis

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
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

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM
Eur J Hum Genet 2022 Jul;30(7):841-847. Epub 2022 Apr 6 doi: 10.1038/s41431-022-01097-8. PMID: 35388185Free PMC Article
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
The use of noncellularized artificial dermis in the prevention of scar contracture and hypertrophy.
Téot L, Otman S, Trial C, Brancati A
Wound Repair Regen 2011 Sep;19 Suppl 1:s49-58. doi: 10.1111/j.1524-475X.2011.00712.x. PMID: 21793966
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
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

Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114

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