Oculocutaneous Albinism

Empatia, empatia: la cura è anche con le parole

Giuseppin I

2024/4 — pag. 77-78 — DOI

Through the narration of the case of a girl with ocular-cutaneous type 1 albinism, the author gives an example of the importance of words and the empathy they can express in managing the most challenging professional situations. ...

La sindrome di Chediak-Higashi a esordio tardivo

Ciancia S, Dalla Porta MF, Cingolani GM, Cellini M, Soresina A, Badolato R, Mariotti I, Cano Garcinuno MdC, Iughetti L

2021/4 — pag. 118-123 — DOI

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the CHS1/LYST gene, encoding for LYST protein, involved in lysosomal trafficking. It is characterized by recurrent bacterial infections, oculocutaneous albin...

Quando accade l’imprevedibile

G. Maggiore, S. Nastasio

2015/1