Depigmented nevi, pityriasis alba, and postinflammatory hypopigmentation are the most frequent hypomelanotic conditions in newborns and infants. These, and examples of less frequent hypopigmentations are briefly discussed in this article. A new classification for depigmented nevi is also proposed.
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Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS.
View Article and Find Full Text PDFThe link between hidradenitis suppurativa and phylloid hypomelanosis in partial trisomy-13 mosaicism: New evidences and further genetic/pathogenetic insights.
Pediatr Dermatol
May 2021
Section of Dermatology and Infectious Diseases, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Partial trisomy-13 mosaicism (PT13M) is a rare condition. Among its possible associated cutaneous features, phylloid hypomelanosis (PH), characterized by leaf-like macules reminiscent of floral ornaments in the form of round or oval spots and patches and oblong lesions, is typical. Two cases of PH associated with hidradenitis suppurativa (HS) have been already reported in the literature.
View Article and Find Full Text PDFTuberous Sclerosis Complex: Early Screening and Infant Outcome in NICU.
J Trop Pediatr
January 2021
Children's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.
Article Synopsis
- This study investigates the clinical and genetic characteristics, drug use, and neuropsychiatric conditions in infants diagnosed with tuberous sclerosis complex (TSC) at a neonatal intensive care unit (NICU) to understand the impact of early screening.* -
- It involved 42 infants with TSC confirmed by genetic testing (TSC1 and TSC2), highlighting common symptoms at diagnosis such as cortical tubers and skin macules, along with a significant increase in epilepsy and cardiac issues over the year.* -
- The findings suggest that early diagnosis allows for timely treatment of epilepsy, which can minimize the risk of neurological problems, even though no strong link was found between mutation types and their clinical outcomes.*
Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report.
World J Clin Cases
May 2020
Department of Gastroenterology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong Province, China.
Background: Primary intestinal lymphangiectasia (PIL) is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics. The cause of the disease is unknown. Through a literature review, we found that PIL and tuberous sclerosis complex (TSC) have some common symptoms and molecular pathways.
View Article and Find Full Text PDFPhakomatoses.
Dermatol Clin
October 2019
Department of Neurology, Wake Forest Baptist Health, 1 Medical Center Boulevard, Winston Salem, NC 27157, USA; Department of Internal Medicine, Section on Hematology and Oncology, Wake Forest Baptist Health, Winston Salem, NC 27157, USA; Translational Science Institute, Wake Forest Baptist Health, Winston Salem, NC 27157, USA.
Phakomatoses present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Café-au-lait macules, intertriginous freckling, Lisch nodules, and tumors including neurofibromas, malignant peripheral nerve sheath tumors, and gliomas. Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti lesions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidney, lung, and heart.
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