Newborn with cutis marmorata telangiectatica congenita
Anales de Pediatría (English Edition)Marina Portal Buenaga +3 more
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A newborn with a rare association of various congenital skin disorders – Answer
Journal 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
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Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome. [PDF]
Clin Case RepABSTRACT Adams–Oliver syndrome (AOS) is a rare disease classically described with scalp vertex aplasia cutis and terminal transverse limb defects. This syndrome is frequently misdiagnosed by taking each feature of the disease separately. A novel de novo missense variant in DLL4 (c.998G>A, p.Cys333Tyr) was identified by Whole Exome Sequencing (WES), and
Cabrera R +8 more
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Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management. [PDF]
Pediatr DermatolABSTRACT 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.
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Urticaria‐like decompression illness in a caisson worker treated successfully in a monoplace chamber
Acute 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
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Cutis marmorata telangiectatica congenita [PDF]
Archives of Disease in Childhood - Fetal and Neonatal Edition, 2020 A female infant with birth weight 2830 g was born in good condition at 38 weeks’ gestation by forceps delivery. At birth, she had flat purple patches over the right leg and arm, with smaller faded markings over the left buttock and leg (figure 1)The affected right knee skin was indurated.
Nisreen Khambati +4 more
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Cutis marmorata telangiectatica congenita
The Turkish Journal of Pediatrics, 1985 H Mocan +4 more
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Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. [PDF]
JAAD Case Rep, 2016 Du G, Zhang X, Zhang T.
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An Extremely Preterm Infant With <i>PIK3CA-</i>Related Overgrowth Spectrum (PROS): Alpelisib Treatment and Outcome. [PDF]
Case Rep GenetPhosphatidylinositol 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.
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Cutis marmorata as a manifestation of decompression illness
Emergency Care Journal, 2020 We present imagines of skin lesions due to a decompression illness (known as cutis marmorata). These alterations are usually transient, but they could be a warning sign of a more severe manifestation of decompression illness.
Antonio Villa, Mara Fiocchi
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