Results 51 to 60 of about 1,355 (174)

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Focal dermal hypoplasia: A rare case report

Indian Journal of Dermatology, 2015
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic ...
Sahana M Srinivas, Ravi Hiremagalore
doaj   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

Should Be Removed or Taken Biopsy in Early Stage: A Retrospective Study of 953 Cases of Nevus Sebaceous From a Single Center

The Journal of Dermatology, Volume 52, Issue 12, Page 1763-1774, December 2025.
ABSTRACT No consensus was made on whether all Nevus sebaceous (NS) should undergo prophylactic excision and the best age of surgery. This is a retrospective study. Patients who underwent surgery and were confirmed as NS by pathology during January 2014 to December 2023 in the Department of Dermatology of Xinhua hospital were included in this study.
Wange Zhou, Yu Cao, Chenglong Wu, Kaili Zhou, Xue Zhang, Dan Deng   +5 more
wiley   +1 more source

Progressive cribriform and zosteriform hyperpigmentation

Indian Dermatology Online Journal, 2014
Here we report a case of a healthy 30-year-old male who presented to us with progressively increasing reticulate pigmented lesions following lines of Blaschko on the right side of abdomen and back.
Rameshwar M Gutte
doaj   +1 more source

Williams Syndrome Associated With Facial Port‐Wine Stain and Phacomatosis Pigmentovascularis: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Williams syndrome (WS) is a rare congenital multi‐systemic condition due to gene deletion. We present a rare case of co‐existence of WS, port wine stains, and phacomatosis pigmentovascularis. This case emphasizes the importance of recognizing the co‐occurrence of such conditions and WS for accurate diagnosis and management.
Bahareh Abtahi‐Naeini, Omid Yaghini, Zahra Razavi   +2 more
wiley   +1 more source

Facial Segmental Infantile Haemangioma: A Cutaneous Mosaicism Quandary

Indian Journal of Dermatology
Mosaicism has long been considered the underlying mechanism of segmental infantile hemangiomas (SIH). This was a prospective pilot case-control study conducted with the objective to quantify the percentage overlap of silhouettes of facial SIH with those ...
Vignesh Naryanan, Rahul Mahajan, Raihan Ashraf, Apoorva Sharma, Brij Lal, Dipankar De, Sanjeev Handa   +6 more
doaj   +1 more source

Adult‐Onset Partial Unilateral Lentiginosis: A Rare Pigmentary Mosaicism With Clinical Response to Tranexamic Acid

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Partial unilateral lentiginosis (PUL) is a rare pigmentary disorder characterized by numerous lentigines grouped within normal skin in a segmental pattern with sharp demarcation at the midline. The authors hereby present a case of a 40‐year‐old female, who presented with multiple asymptomatic, gradually progressive, brownish flat skin lesions ...
Niranjan Pudasaini, Sabin Poudel, Aashutosh Pokharel, Anup Mishra, Anil Kumar Singh Dangol, Manisha Chapagain   +5 more
wiley   +1 more source

Blaschkoid Facial Lesion in an Adult Woman

JEADV Clinical Practice, Volume 5, Issue 1, Page 340-342, March 2026.
João Teixeira, Joana Xará, André Aparício‐Martins, José Carlos Cardoso, Margarida Gonçalo   +4 more
wiley   +1 more source

Sclerosing diseases of the skin

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 10, Page 1282-1301, October 2025.
Summary Sclerosing skin diseases comprise a group of distinct dermatological conditions characterized by fibrotic changes that may severely impair patients’ quality of life. These conditions often present with cutaneous manifestations and, in some cases, may extend to extracutaneous tissues, potentially resulting in significant morbidity and mortality.
Yasamin Kalantari, Katharina Meier, Kamran Ghoreschi, Maria Kinberger, Farzan Solimani   +4 more
wiley   +1 more source