Results 21 to 30 of about 1,415 (230)

Unilateral reticulate pigmentation of Kitamura

Pigment International, 2017
Reticulate acropigmentation of Kitamura (RAPK) is a rare genodermatosis characterized by pigmented, angulated, atrophic freckle-like lesions arranged in a reticulate pattern on the dorsal surface of hands and feet with symmetric involvement. We hereby report a case of unilateral RAPK in a 29-year-old female.
Gousia Sheikh, YasmeenJ Bhat, MuzaffarA Mir, Iffat Hassan   +3 more
openaire   +1 more source

Side-effects to the use of laptop computers: erythema ab igne

Dermatology Reports, 2010
The use of laptop computers is increasing, and many children and young adults spend hours with their laptops on their laps daily. We report a case with erythema ab igne on the thigh of a 17-year-old girl, induced by use of laptop computers four to five ...
Lisa Linnea Søholm Secher, Dina Vind-Kezunovic, Claus Otto Carl Zachariae   +2 more
doaj   +1 more source

Reticulate acropigmentation of dohi: Dermatoscopic features in two cases

Clinical Dermatology Review, 2022
Reticulate acropigmentation of Dohi is a rare genodermatosis inherited as an autosomal dominant trait. It is a localized form of dyschromatosis universalis hereditarian, characterized by the presence of hyperpigmented and hypopigmented macules with ...
Jinal Jainendra, Juhi Devyangbhai Shah, Dhruv Ramanbhai Patel, Pragya Ashok Nair   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Dermoscopy of reticulate acropigmentation of Kitamura and Dowling Degos disease – a rare overlap in two generations

Pigment International
Reticulate acropigmentation of Kitamura and Dowling Degos Disease are rare inherited disorders of reticulate pigmentation. Although, there are only subtle differences between the two entities clinically, the dermoscopic features of both are specific and ...
Roda Laishram, Rojita Akham, Neirita Hazarika, Reshma Jeladharan   +3 more
doaj   +1 more source

A rare case of late onset reticulate acropigmentation of Kitamura without involvement of the palms and soles [PDF]

JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2015
Background: Reticulate acropigmentations of Kitamura (RAPK) is an autosomal dominant inherited disorder characterized by pigmented, angulated, irregular freckle-like lesion with atrophy on the surface, arranged in a reticulate pattern on the dorsa of ...
Conny Melly, Vini Onmaya, Sri Adi Sularsito, Sondang Panjaitan Sirait, Rahadi Rihatmadja, Indah Widyasari   +5 more
doaj   +1 more source

Penfluridol Triggers GSDME‐Mediated Immunogenic Pyroptosis to Potentiate Antitumor Immunotherapy

Advanced Science, EarlyView.
A high‐throughput screen of FDA‐approved antipsychotics identifies penfluridol as a potent pyroptosis inducer acting via direct TTI1 inhibition. This triggers TNFA‐NFKB signaling and caspase‐8/‐3‐dependent GSDME cleavage. The compound stimulates antitumor immunity alone and synergizes with anti‐PD‐1 therapy, while low TTI1 expression emerges as a ...
Linfeng Li, Daishi Li, Danyao Chen, Yating Dian, Lei Yao, Hui Su, Ziyu Guo, Deze Zhao, Zihua Wu, Furong Zeng, Chunfang Zhang, Guangtong Deng   +11 more
wiley   +1 more source

The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

Indian Journal of Dermatology, 2014
Galli Galli disease (GGD) is the name given to a rare form of acantholytic Dowling-Degos disease. (DDD), the latter itself being a rare condition. We believe we are describing for the first time in Indian dermatologic literature a case of GGD in a family
Shyam Verma, Sandra M Pasternack, Arno Rutten, Thomas Ruzicka, Regina C Betz, Sandra Hanneken   +5 more
doaj   +1 more source

Dowling–Degos disease with hidradenitis suppurativa and inflammatory arthritis in two generations

Indian Dermatology Online Journal, 2020
Dowling–Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by reticulate brown-to-black pigmentation of the flexures, pitted perioral acneiform scars, and comedo-like follicular papules on the flexures.
Anju George, Renu George, Ashish J Mathew, Ramesh B Telugu   +3 more
doaj   +1 more source

Association of amyloidosis cutis dyschromica and familial Mediterranean fever [PDF]

Anais Brasileiros de Dermatologia, 2017
: Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules.
Asli Akin Belli, Asude Kara, Yelda Dere, Nevin Yilmaz   +3 more
doaj   +2 more sources