1.
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.
Clin Exp Dermatol
; 47(4): 812-815, 2022 Apr.
Article
in English
| MEDLINE
| ID: mdl-34958133
ABSTRACT
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
Subject(s)
Hyperpigmentation , Vitamin B 12 Deficiency , ATP-Binding Cassette Transporters/genetics , Female , Homozygote , Humans , Hyperpigmentation/genetics , Mutation , Nucleocytoplasmic Transport Proteins/genetics , Nucleocytoplasmic Transport Proteins/metabolism , Vitamin B 12/therapeutic use , Vitamin B 12 Deficiency/complications
2.
J Eur Acad Dermatol Venereol
; 32(6): e237-e240, 2018 Jun.
Article
in English
| MEDLINE
| ID: mdl-29341253
Subject(s)
Dermatitis, Exfoliative/congenital , Dermatitis, Exfoliative/pathology , Nevus, Sebaceous of Jadassohn/diagnosis , Psoriasis/diagnosis , Adult , Dermatitis, Exfoliative/genetics , Diagnosis, Differential , Female , Histocompatibility Antigens Class I/genetics , Histocompatibility Antigens Class II/genetics , Humans , Nevus, Sebaceous of Jadassohn/congenital , Psoriasis/congenital
3.
s.l; s.n; 2018. 4 p. ilus.
Non-conventional
in English
| Sec. Est. Saúde SP, SESSP-ILSLPROD, Sec. Est. Saúde SP, SESSP-ILSLACERVO, Sec. Est. Saúde SP
| ID: biblio-1023687
