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Page 1
Aplasia cutis congenita.
Irons GB, Olson RM. Irons GB, et al. Plast Reconstr Surg. 1980 Aug;66(2):199-203. doi: 10.1097/00006534-198008000-00003. Plast Reconstr Surg. 1980. PMID: 6996008
Aplasia cutis congenita is an uncommon condition; fewer than 300 cases have been reported in the literature. ...The case of aplasia cutis congenita of the upper arm may represent a persistence of prenatal focal ischemia that has proved to …
Aplasia cutis congenita is an uncommon condition; fewer than 300 cases have been reported in the literature. ...The cas …
Recognizable neonatal clinical features of aplasia cutis congenita.
Schierz IAM, Giuffrè M, Del Vecchio A, Antona V, Corsello G, Piro E. Schierz IAM, et al. Ital J Pediatr. 2020 Feb 18;46(1):25. doi: 10.1186/s13052-020-0789-5. Ital J Pediatr. 2020. PMID: 32070410 Free PMC article.
BACKGROUND: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isolated lesions in wellbeing newborns could often be undetected, and solitary lesions in the context of polymalformative syndromes could not alw …
BACKGROUND: Aplasia cutis congenita (ACC), classified in nine groups, is likely to be underreported, since milder isola …
Epidemiology of aplasia cutis congenita: A population-based study in Europe.
Coi A, Barisic I, Garne E, Pierini A, Addor MC, Aizpurua Atxega A, Ballardini E, Braz P, Broughan JM, Cavero-Carbonell C, de Walle HEK, Draper ES, Gatt M, Häusler M, Kinsner-Ovaskainen A, Kurinczuk JJ, Lelong N, Luyt K, Mezzasalma L, Mullaney C, Nelen V, Odak L, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiśniewska K, Yevtushok L, Santoro M. Coi A, et al. J Eur Acad Dermatol Venereol. 2023 Mar;37(3):581-589. doi: 10.1111/jdv.18690. Epub 2022 Nov 11. J Eur Acad Dermatol Venereol. 2023. PMID: 36300660 Free article.
BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. ...Prevalence across 5-year periods did not differ significantly and no significant differenc …
BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence …
Aplasia cutis congenita in a CDC42-related developmental phenotype.
Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M. Schnabel F, et al. Am J Med Genet A. 2021 Mar;185(3):850-855. doi: 10.1002/ajmg.a.62009. Epub 2020 Dec 7. Am J Med Genet A. 2021. PMID: 33283961
Both affected individuals presented with short stature, distinctive craniofacial features, pectus deformity as well as heart and eye anomalies, similar to the recently described Noonan syndrome-like phenotype associated with this variant. Remarkably, one of the patients additiona …
Both affected individuals presented with short stature, distinctive craniofacial features, pectus deformity as well as heart and eye anomali …
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
Raymundo JR, Zhang H, Smaldone G, Zhu W, Daly KE, Glennon BJ, Pecoraro G, Salvatore M, Devine WA, Lo CW, Vitagliano L, Marneros AG. Raymundo JR, et al. J Clin Invest. 2023 Dec 19;134(4):e174138. doi: 10.1172/JCI174138. J Clin Invest. 2023. PMID: 38113115 Free PMC article.
Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has been proposed to be due to a primary keratinocyte abnormality. ...Instead, KCTD1/KCTD15 inactivation in neural crest cells resulted in ACC linked to midline skull defe …
Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has been proposed to be due to …
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome.
Kalavar M, Echegaray JJ, Ashkenazy N, McKeown C, Berrocal AM. Kalavar M, et al. Ophthalmic Genet. 2022 Apr;43(2):258-261. doi: 10.1080/13816810.2021.1998552. Epub 2021 Dec 13. Ophthalmic Genet. 2022. PMID: 34895016
PURPOSE: To describe choroidal calcifications as an ophthalmic feature in aplasia cutis congenita (ACC) with oculoectodermal syndrome (OES). OBSERVATIONS: Two cases of ACC/OES with characteristic echographic evidence of choroidal calcifications are des …
PURPOSE: To describe choroidal calcifications as an ophthalmic feature in aplasia cutis congenita (ACC) with oculoectod …
Aplasia cutis congenita of the scalp. Report of 16 cases.
Kruk-Jeromin J, Janik J, Rykała J. Kruk-Jeromin J, et al. Dermatol Surg. 1998 May;24(5):549-53. doi: 10.1111/j.1524-4725.1998.tb04205.x. Dermatol Surg. 1998. PMID: 9598010 Review.
BACKGROUND: Aplasia cutis congenita (CCA) is a rare developmental anomaly. Its etiology and pathogenesis remain unclear. ...OBJECTIVES: This paper describes 16 patients with CCA of the scalp, ranging in age from 3 to 15 years, observed over the period …
BACKGROUND: Aplasia cutis congenita (CCA) is a rare developmental anomaly. Its etiology and pathogenesis remain unclear …
Aplasia Cutis Congenita With Cutaneous Meningioma: A Rare Case.
Huang S, Huang Q, Dou X, Yu B, Tian W. Huang S, et al. Am J Dermatopathol. 2023 Jul 1;45(7):492-494. doi: 10.1097/DAD.0000000000002467. Am J Dermatopathol. 2023. PMID: 37249364
Ultimately, histopathologic examination and immunohistochemistry results supported a diagnosis of cutaneous meningioma. In addition, dermal dysplasia was observed above the tumor, manifested by thinning of the dermis and loss of appendages. ...There have been mainly clinic …
Ultimately, histopathologic examination and immunohistochemistry results supported a diagnosis of cutaneous meningioma. In addition, dermal …
Low risk of clinically important central nervous system dysraphism in a cohort study of 69 patients with isolated aplasia cutis congenita of the head.
Kuemmet TJ, Miller JJ, Michalik D, Lew SM, Maheshwari M, Humphrey SR. Kuemmet TJ, et al. Pediatr Dermatol. 2020 May;37(3):455-460. doi: 10.1111/pde.14117. Epub 2020 Feb 13. Pediatr Dermatol. 2020. PMID: 32053222
Inclusion criteria were subjects with aplasia cutis congenita of the head who received CT or MR imaging of the head. RESULTS: We identified a total of 69 subjects with aplasia cutis congenita affecting the head and who received imaging. . …
Inclusion criteria were subjects with aplasia cutis congenita of the head who received CT or MR imaging of the head. RE …
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
Snape KM, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. Snape KM, et al. Am J Med Genet A. 2009 Aug;149A(8):1860-81. doi: 10.1002/ajmg.a.32708. Am J Med Genet A. 2009. PMID: 19610107 Review.
The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as the eponymous Adams-Oliver syndrome (AOS). ...Through the description of three previously unreported affected individuals, ascertained through …
The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) is often referred to as th …
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