Results 41 to 50 of about 20,324 (156)

A newborn with a rare association of various congenital skin disorders – Answer

open access: yesJournal of Pediatric and Neonatal Individualized Medicine, 2022
We report a female newborn with a combination of 3 skin lesions: Mongolian spots, port-wine stains, and cutis marmorata telangiectatica congenita. This association is an unclassifiable form of phacomatosis and only 7 similar cases have been published in ...
Federico Mecarini   +2 more
doaj   +1 more source

Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management. [PDF]

open access: yesPediatr Dermatol
ABSTRACT Adams‐Oliver syndrome (AOS) is a rare genetic disorder primarily characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The condition presents with a range of cutaneous features, most notably ACC, cutis marmorata telangiectatica congenita, and nail anomalies.
Yang S, Lam JM.
europepmc   +2 more sources

Newborn with cutis marmorata telangiectatica congenita: a case report and review of the literature [PDF]

open access: diamondPediatria Polska
Małgorzata Kamińska   +5 more
semanticscholar   +2 more sources

An Extremely Preterm Infant With <i>PIK3CA-</i>Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome. [PDF]

open access: yesCase Rep Genet
Phosphatidylinositol 4,5‐bisphosphate 3‐kinase catalytic subunit alpha (PIK3CA)‐related overgrowth spectrum (PROS) is a group of rare genetic asymmetric and atypical overgrowth disorder syndromes. Affecting skin, adipose and connective tissues, brain, bone, and vasculature and severity influenced by the gestational age at which the change occurred ...
Anderson S, Velinov M.
europepmc   +2 more sources

Urticaria‐like decompression illness in a caisson worker treated successfully in a monoplace chamber

open access: yesAcute Medicine & Surgery, 2022
Background Although decompression illness is rare for nondivers, it can happen in an environment involving rapid decompression. Recompression is the recommended treatment.
Komugi Okeya   +3 more
doaj   +1 more source

Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome. [PDF]

open access: yesKaohsiung J Med Sci
The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 2, February 2025.
Tsai YT, Yang YC.
europepmc   +2 more sources

Cutis marmorata telangiectatica congenita with isolated lower limb defect and angiokeratoma

open access: yesBirth Defects Research, 2022
Sir, Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, capillary malformation, composed of capillaryand venous-sized vessels.
S. Baisya   +3 more
semanticscholar   +1 more source

Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia

open access: yesIndian Journal of Paediatric Dermatology, 2020
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation first described by van Lohuizen in 1922. CMTC is an infrequently reported congenital cutaneous disorder and is usually present at birth but can appear up ...
Manish Jain   +3 more
doaj   +1 more source

Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature

open access: yesJournal of Medical Case Reports, 2009
Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and ...
Dueñas-Arias Jesus E   +6 more
doaj   +1 more source

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