Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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gene IKBKG

2 articoli — 2025-2026

EL I Poster degli specializzandi
Accesso libero
Pigmenti fuori posto: indizi per una diagnosi rara

Sarno E, Cecconi I

2026/5 — pag. 131-132 — DOI

The paper presents the clinical case of a young girl initially diagnosed with cutaneous mastocytosis based on early skin lesions. However, the persistence of hyperpigmented macules over three years, the development of scarring alopecia, dental agenes...

EL Casi indimenticabili
Quando la pelle racconta: dalle vescicole al gene NEMO

Marrazzo M.

2025/2 — pag. 43-44 — DOI

The paper presents the case of a 7-day-old newborn, born at term, with widespread cutaneous lesions on their limbs and trunk, sparing their face, palms and soles. The lesions, initially vesicular, evolved into crusts and hyperkeratosis, following Bla...

Argomenti correlati
Infant, Newborn (268) Language Development Disorders (20) Hyperpigmentation (18) Lesioni cutanee (18) Alopecia (15) Skin Diseases, Genetic (14) Genes, X-Linked (14) Mastocytosis, Cutaneous (10) cutaneous mastocytosis (9) epidermolysis bullosa (9) linee di Blaschko (9) Blaschko lines (9) Keratosis (9) mastocitosi cutanea (7) family history (7) incontinentia pigmenti (6) epidermolisi bollosa (6) anamnesi familiare (6) Genetic Diseases, X-Linked (5) ritardo del linguaggio (4)