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About 273 results

ALLMedicine™ Aplasia Cutis Congenita Center

Research & Reviews  103 results

Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal sy...
https://doi.org/10.1080/13816810.2021.1998552
Ophthalmic Genetics; Kalavar M, Echegaray JJ et. al.

Dec 14th, 2021 - To describe choroidal calcifications as an ophthalmic feature in aplasia cutis congenita (ACC) with oculoectodermal syndrome (OES). Two cases of ACC/OES with characteristic echographic evidence of choroidal calcifications are described. The ophtha...

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary arte...
https://doi.org/10.1002/ajmg.a.62562
American Journal of Medical Genetics. Part A; Rojnueangnit K, Phawan T et. al.

Nov 11th, 2021 - Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis c...

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-c...
https://doi.org/10.1097/MCD.0000000000000387
Clinical Dysmorphology; Butler KM, Bahrambeigi V et. al.

Aug 31st, 2021 - Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita...

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita an...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463496
Genetics in Medicine : Official Journal of the American C... Schnur RE, Yousaf S et. al.

May 28th, 2021 - The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies adjacent to the mini...

A Case of Large Aplasia Cutis Congenita with Underlying Skull Defect: Effective Surgica...
https://doi.org/10.1159/000512022
Pediatric Neurosurgery; Scotti A, Benanti E et. al.

Apr 8th, 2021 - Aplasia cutis congenita (ACC) is a rare congenital abnormality characterized by the absence of a portion of skin at birth which most commonly involves the scalp and can affect the galea, the pericranium, the bone, and the dura mater. It can be an ...

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News  6 results

Consider Trichoscopy for Suspected Hair Disorders
https://www.medscape.com/viewarticle/935321

Aug 7th, 2020 - In the clinical experience of Bianca Maria Piraccini, MD, dermoscopic imaging of the scalp and hair can help physicians diagnose a variety of disorders that would normally require an invasive biopsy. Dermoscopic imaging, also known as trichoscopy,...

Consider Trichoscopy for Suspected Hair Disorders
https://www.staging.medscape.com/viewarticle/935321

Aug 7th, 2020 - In the clinical experience of Bianca Maria Piraccini, MD, dermoscopic imaging of the scalp and hair can help physicians diagnose a variety of disorders that would normally require an invasive biopsy. Dermoscopic imaging, also known as trichoscopy,...

For suspected hair disorders, consider trichoscopy before biopsy
https://www.mdedge.com/dermatology/article/226494/pediatrics/suspected-hair-disorders-consider-trichoscopy-biopsy
Doug Brunk

Aug 4th, 2020 - In the clinical experience of Bianca Maria Piraccini, MD, dermoscopic imaging of the scalp and hair can help physicians diagnose a variety of disorders that would normally require an invasive biopsy. Dr.

Birth Defects Warning Over Hyperthyroidism Treatment
https://www.medscape.com/viewarticle/909221

Feb 19th, 2019 - A drug safety update warning of an increased risk of congenital malformations and a risk of acute pancreatitis associated with carbimazole was issued by the Medicines and Healthcare products Regulatory Agency (MHRA). The MHRA advised women of chil...

Birth Defects Warning Over Hyperthyroidism Treatment
https://www.staging.medscape.com/viewarticle/909221

Feb 19th, 2019 - A drug safety update warning of an increased risk of congenital malformations and a risk of acute pancreatitis associated with carbimazole was issued by the Medicines and Healthcare products Regulatory Agency (MHRA). The MHRA advised women of chil...

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