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Page 1
Aplasia cutis congenita: clinical management and a new classification system.
Silberstein E, Pagkalos VA, Landau D, Berezovsky AB, Krieger Y, Shoham Y, Levy A, Rosenberg L, Silberstein T. Silberstein E, et al. Plast Reconstr Surg. 2014 Nov;134(5):766e-774e. doi: 10.1097/PRS.0000000000000638. Plast Reconstr Surg. 2014. PMID: 25347652
BACKGROUND: Aplasia cutis congenita is a rare, congenital disorder. In its severe phenotype, it is potentially life threatening. ...The authors present their experience treating newborns with aplasia cutis congenita and its progressive de …
BACKGROUND: Aplasia cutis congenita is a rare, congenital disorder. In its severe phenotype, it is potentially life thr …
Aplasia cutis congenita: approach to evaluation and management.
Browning JC. Browning JC. Dermatol Ther. 2013 Nov-Dec;26(6):439-44. doi: 10.1111/dth.12106. Dermatol Ther. 2013. PMID: 24552406
Aplasia cutis congenita (ACC) refers to any condition in which there is absence of skin at birth. This can be isolated ACC occurring on the scalp, with or without underlying ectopic neural tissue, or ACC can be associated with other conditions such as
Aplasia cutis congenita (ACC) refers to any condition in which there is absence of skin at birth. This can be isolated
Consensus Statement on Diagnostic Criteria for PHACE Syndrome.
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE Syndrome Research Conference. Metry D, et al. Pediatrics. 2009 Nov;124(5):1447-56. doi: 10.1542/peds.2009-0082. Epub 2009 Oct 26. Pediatrics. 2009. PMID: 19858157
Definite PHACE requires the presence of a characteristic segmental hemangioma or hemangioma >5 cm on the face or scalp plus 1 major criterion or 2 minor criteria. Possible PHACE requires the presence of a hemangioma >5 cm on the face or scalp plus 1 minor crit …
Definite PHACE requires the presence of a characteristic segmental hemangioma or hemangioma >5 cm on the face or scalp plus 1 majo …
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G. Dudoignon B, et al. Am J Med Genet A. 2020 Jan;182(1):29-37. doi: 10.1002/ajmg.a.61364. Epub 2019 Oct 25. Am J Med Genet A. 2020. PMID: 31654484
RATIONALE: Adams-Oliver syndrome (AOS) is a genetic disorder characterized by the association of aplasia cutis congenita (ACC), terminal transverse limb defect (TTLD), congenital cardiac malformation (CCM), and minor features, such as cutaneous, neurological, …
RATIONALE: Adams-Oliver syndrome (AOS) is a genetic disorder characterized by the association of aplasia cutis congenita
Conservative management of aplasia cutis congenita.
Yilmaz S, Apaydin I, Yenidünya O, Adanali G, Gültan S. Yilmaz S, et al. Dermatol Surg. 1997 May;23(5):402-3. doi: 10.1111/j.1524-4725.1997.tb00074.x. Dermatol Surg. 1997. PMID: 9179253 No abstract available.
Conservative management of aplasia cutis congenita: case report.
Six EG, Kelly DL Jr. Six EG, et al. Neurosurgery. 1981 Feb;8(2):233-5. doi: 10.1227/00006123-198102000-00016. Neurosurgery. 1981. PMID: 7207791
A male newborn with a large scalp and skull defect and a cervical meningocele was transferred to the neonatal intensive care unit of the North Carolina Baptist Hospital. The scalp defect measured 8.5 x 9.5 cm, and the sagittal sinus was exposed. ...
A male newborn with a large scalp and skull defect and a cervical meningocele was transferred to the neonatal intensive care u …
Ectodermal dysplasia: otolaryngologic manifestations and management.
Daniel E, McCurdy EA, Shashi V, McGuirt WF Jr. Daniel E, et al. Laryngoscope. 2002 Jun;112(6):962-7. doi: 10.1097/00005537-200206000-00005. Laryngoscope. 2002. PMID: 12160292
RESULTS: All 12 patients had confirmed ectodermal dysplasia by genetic evaluation with strong familial manifestations of the spectrum. Seven of 12 patients presented with X-linked hypohidrotic ectodermal dysplasia. Three of these seven were femalepatie …
RESULTS: All 12 patients had confirmed ectodermal dysplasia by genetic evaluation with strong familial manifestations of the s …
Gomez-Lopez-Hernandez syndrome: reappraisal of the diagnostic criteria.
Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Sukhudyan B, et al. Eur J Pediatr. 2010 Dec;169(12):1523-8. doi: 10.1007/s00431-010-1259-7. Epub 2010 Jul 23. Eur J Pediatr. 2010. PMID: 20652311
The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia. ...A high index of suspicion is required t …
The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesi …