Rare subtypes of epidermolysis bullosa: three case reports and their pedigree analysis / 中华皮肤科杂志

Objective:To report 3 cases of rare subtypes of hereditary epidermolysis bullosa.Methods:Clinical data were collected from the probands and their relatives, whole-exome sequencing was performed to screen disease-causing mutations in the probands, and Sanger sequencing or qPCR was conducted to verify the mutations in patients and their relatives.Results:Case 1 mainly presented with linear red scars on the back, and the proband, her mother with similar clinical manifestations and her asymptomatic daughter all carried a mutation c.4573G>A (p.Gly1525Arg) in the COL7A1 gene. Case 2 presented with generalized reticular pigmentation all over the body and occasional blisters restricted to the hand and foot, and carried a de novo mutation c.74C>T (p.Pro25Leu) in the KRT5 gene. Case 3 presented with pigmentation abnormalities mainly located at the sun-exposed sites and incomplete syndactyly of the left hand, and carried homozygous deletion mutations in exons 2-6 of the FERMT1 gene, which were inherited from her asymptomatic parents. Case 1 was diagnosed with dominant dystrophic epidermolysis bullosa pruriginosa, case 2 was diagnosed with epidermolysis bullosa simplex with mottled pigmentation, and case 3 was diagnosed with Kindler epidermolysis bullosa. Conclusion:The clinical manifestations of epidermolysis bullosa vary greatly, and gene detection is very important for confirmation of diagnosis of its rare types.

Reticulate pigmentary disorders.

Reticulate pigmentary disorders is a term that is loosely defined to include a spectrum of acquired and congenital conditions with different morphologies. The presentations vary from the reticular or net like pattern to the" freckle like" hyper and hypopigmented macules that are usually restricted to the true genetic "reticulate" pigmentary disorders. There is little clarity on this topic and related terms, in major dermatology textbooks. Hence, to harmonize the different entities we feel that the term "mottled pigmentation" could be used to include reticulate pigmentary disorders (acquired and congenital), dyschromasias and the disorders with a reticular pattern. The genetic reticulate pigmentary disorders can also be classified according to the gene loci which in the majority of cases are localized to keratin 5/14. A more useful clinical method of classification is based on the regional distribution, which includes facial, truncal, acral or flexural types. In this review we will largely focus on the inherited reticulate pigmentary disorders.

A Possible Case of Epidermolysis Bullosa Simplex with Mottled Pigmentation / 대한피부과학회지

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare subtype of EBS and characterized by blistering of the skin, mottled pigmentation, and palmoplantar hyperkeratosis. We report a 3-year-old boy with mottled pigmentation on the posterior neck, flank, buttock, and extremities, blisters on palm, and skin-colored keratotic papules on the hands and feet. He had had a history of blistering on his calves. His mother has similar skin lesions to her son's.