Results 71 to 80 of about 72,671 (182)

Isolated choroidal melanocytosis: clinical update on 37 cases

, 2020
Purpose Isolated choroidal melanocytosis is a congenital melanocytic hyperpigmentation involving the choroid that is not associated with iridic or scleral features of ocular melanocytosis.
Augsburger, James J., Brooks, Cassandra C., Correa, Zelia M., Cassandra C. Brooks, James J. Augsburger, Zelia M. Correa   +5 more
core   +1 more source

OCULAR LOCALIZATION OF PIGMENTATION IN OCULODERMAL MELANOCYTOSIS

, 1995
Sixteen patients with oculodermal melanocytosis (Nevus of Ota, Congenital ocular melanocytosis) were investigated for the location and the density of the ocular pigmentation, the increase in intraocular location and the malignant ...
OĞUZ, VELİTTİN, OCAKOGLU, O, PAZARLI, Halit, ÇELİKKOL, LEYLA, USTUNDAG, C, OĞUZ, Oya   +5 more
core   +1 more source

Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant: A harbinger of GM1 gangliosidosis

, 2016
Gangliosidoses are a group of rare lysosomal storage diseases (LySD) involving the accumulation of lipids in multiple organ systems, including the central and peripheral nervous systems. These disorders are inherited in an autosomal recessive pattern and
Chu, Catherine, Armstrong-Javors, Amy
core   +1 more source

Laugier–Hunziker Syndrome in an 8-Year-Old Boy with Scleral Melanocytosis, Lingual Pigmentation, Labial Pigmentation, and Melanonychia Striata

, 2020
Laugier–Hunziker syndrome is a rare, acquired disorder characterized by mucocutaneous hyperpigmentation and melanonychia striata with no underlying systemic abnormalities.
Joseph M. Lam, Benjamin Barankin, Kin Fon Leong, Alexander K. C. Leung   +3 more
core   +1 more source

Genomic evolution of uveal melanoma arising in ocular melanocytosis

, 2019
Ocular melanocytosis is the most important predisposing condition for the eye cancer uveal melanoma (UM). Here, we present a patient who developed UM arising within ocular melanocytosis who was treated with enucleation (eye removal), which provided an ...
Sanchez, Margaret I, Harbour, J William, Field, Matthew G, Dubovy, Sander R, Decatur, Christina L, Durante, Michael A, Covington, Kyle R   +6 more
core   +1 more source

First bone marrow transplantation for mucopolysaccharidosis type I in Vietnam: a case report

Therapeutic Advances in Rare Disease
Mucopolysaccharidosis type I (MPS-I) is an inherited lysosomal storage disorder characterized by alpha-L-iduronidase deficiency, leading to progressive multi-organ damage and fatal complications.
Le Nguyen-Ngoc-Quynh, Ngoc Can-Thi-Bich, Duong Dang-Anh, Ha Dang-Thi, Thoa Ta-Thi, Binh Nguyen-Thanh, Dung Vu-Chi, Dien Tran-Minh, Tung Cao-Viet   +8 more
doaj   +1 more source

Dermatological changes in a prospective cohort of acutely ill, hospitalised Malawian children, stratified according to nutritional status

BMJ Paediatrics Open
Rationale Since the first documentation of skin changes in malnutrition in the early 18th century, various hair and skin changes have been reported in severely malnourished children globally.
Michael Boele van Hensbroek, Robert H J Bandsma, Debbie Thompson, Judd L Walson, Kelvin Mponda, Wieger Voskuijl, Emmie Mbale, Deborah van den Brink, Colette van Hees, Fletchter Ngong'a, Emma Segula, Daniella Brals, James Berkely   +12 more
doaj   +1 more source

Successive Uveal Melanomas with Different Gene Expression Profiles in an Eye with Ocular Melanocytosis

, 2018
Ocular melanocytosis portends a higher risk of uveal melanoma. Multifocal uveal melanoma has been described previously and has been associated with ocular melanocytosis.
Tanya Glaser, Akshay S. Thomas, Miguel A. Materin   +2 more
core   +1 more source

Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations [PDF]

, 2015
Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases.
Kaur, Tejinder, Kooner, Shitij, Sethi, Anisha, Sharma, Nidhi, Banger, Harmeet, Harmeet Banger, Anisha Sethi, Shitij Kooner, Tejinder Kaur, Nidhi Sharma, Kaur, Tejinder ; Sharma, Nidhi ; Sethi, Anisha ; Kooner, Shitij ; Banger, Harmeet   +10 more
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Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn

, 2015
We report a case of a newborn girl with neurocutaneous melanocytosis, hemimegalencephaly and a large ovarian cyst. She also had melanocyte deposition in the filum terminale.
Derinkuyu, BETÜL EMİNE, Ergenekon, Ebru, Unal, Sezin, Boyunaga, ÖZNUR LEMAN, UÇAR, MURAT   +4 more
core   +1 more source