Results 11 to 20 of about 72,671 (182)

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. [PDF]

J Invest Dermatol, 2016
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous ...
Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, Atherton DJ, Aubert H, Bagazgoitia L, Barbarot S, Bourrat E, Chiaverini C, Chong WK, Duffourd Y, Glover M, Groesser L, Hadj-Rabia S, Hamm H, Happle R, Mushtaq I, Lacour JP, Waelchli R, Wobser M, Vabres P, Patton EE, Kinsler VA.   +25 more
europepmc   +3 more sources

Comment on “Comparison of the Efficacy of 1064‐ and 730‐nm Picosecond Lasers for Acquired Dermal Melanocytosis” [PDF]

J Cosmet Dermatol
Journal of Cosmetic Dermatology, Volume 24, Issue 10, October 2025.
Michelle J. Chang, Justin W. Marson, Alisen Huang   +2 more
wiley   +2 more sources

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf–Hirschhorn Syndrome: Diagnostic Overshadowing [PDF]

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α‐l‐iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf–Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment.
Karla Cifuentes‐Uribe, Sandrine Girard, Roseline Froissart, Magali Pettazzoni, Nathalie Guffon   +4 more
wiley   +2 more sources

Bloom Syndrome Presenting With Early‐Onset Myelodysplastic Syndrome and Triple Overlapping Vascular Neurocutaneous Phenotypes: A Case Report [PDF]

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early‐onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8‐year‐old girl who presented with severe growth failure and persistent pancytopenia.
Elham Shahgholi, Nahid Khosroshahi, Sara Sadeghi   +2 more
wiley   +2 more sources

Phakomatosis Pigmentovascularis (Type IIb) With Bilateral Glaucoma and Urrets‐Zavalia Syndrome Following MicroPulse TSCPC: A Case Report [PDF]

Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.
Purpose We are aimed at describing the clinical course and management of a rare case of phakomatosis pigmentovascularis (PPV Type IIb) presenting with bilateral glaucoma, complicated by bilateral Urrets‐Zavalia syndrome (UZS) following MicroPulse transscleral cyclophotocoagulation (MP‐TSCPC).
Ali Alshehri, Yasser Bin Thabet, Mohammed Naji Almutairi, Cristiano Giusti   +3 more
wiley   +2 more sources

Varied presentation of congenital dermal melanocytosis with speckled lentigines

Indian Journal of Dermatopathology and Diagnostic Dermatology
Nevus of Ota and nevus of Ito are rare dermal melanocytosis. These occur due to the failure of migration of melanocytes from the neural crest to the epidermis. They are more common in Asian females and usually present at birth.
Seema Rani, Aishwarya Anil Muddebihal, Purnima Malhotra   +2 more
doaj   +2 more sources

A Telangiectasia Macularis Eruptiva Perstans in a Child: A Rare Vascular Phenotype of Cutaneous Mastocytosis [PDF]

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Telangiectasia macularis eruptiva perstans (TMEP) is a rare vascular phenotype of cutaneous mastocytosis predominantly reported in adults; pediatric cases are exceptional and are particularly difficult to recognize in darker skin phototypes. We report the case of a 4‐year‐old girl who presented with subtle brown macules and faint telangiectasias, in ...
Bouchra Baghad, Meriem Takiddine, Farida Marnissi, Soumiya Chiheb, Nikhat Kaura   +4 more
wiley   +2 more sources

Nevus of Ota Involving Palate: Case Reports and Review

Journal of Indian Academy of Oral Medicine and Radiology, 2007
Nevus of Ota is a rare dermal melanocytosis. 2 case reports of this rare leson is reported in Indian patients.
Ajay Pratap Singh Parihar, Anjana Bagewadi, Vaishali Keluskar, Arvind Shetti   +3 more
doaj   +1 more source

Benign Proliferative Nodules in a Giant Congenital Melanocytic Nevus: Diagnostic Challenge and Management [PDF]

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Congenital melanocytic nevi are cutaneous malformations present at birth, resulting from a benign proliferation of melanocytes. Although generally benign, they can have significant psychological impacts and carry a non‐negligible risk of progression to malignant melanoma.
Fenohasina Rakotonandrasana, Holy Tiana Andrianjafitrimo, Onivola Raharolahy, Andrianandrianina Mbolatiana Kiady Armando Rakotomanana, Georges Cheny Fenohasina, Voahanginirina Nathalie Ralimalala, Malalaniaina Andrianarison, Fandresena Arilala Sendrasoa, Irina Mamisoa Ranaivo, Fahafahantsoa Rapelanoro Rabenja, Lala Soavina Ramarozatovo, Semonti Nandi   +11 more
wiley   +2 more sources

An Unusual Case of Congenital Dermal Melanocytosis [PDF]

Annals of Dermatology, 2010
Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis. The most common forms include the Mongolian spot, blue nevus, nevus of Ota, and nevus of Ito. Some types of dermal melanocytosis do not fit into any of these morphologic categories, however.
Sanghoon, Lee, Dae-Hyun, Kim, Gunhong, Lee, Kyu-Uang, Whang, Jong Suk, Lee, Young-Lip, Park   +5 more
openaire   +3 more sources