093 Elevated epidermal proteolysis and altered KLK5 expression in Acral Peeling Skin Syndrome
نویسندگان
چکیده
منابع مشابه
Hypercalciuria in a child with acral peeling skin syndrome: a case report.
We present a case of 3-year-old Caucasian boy who developed monthly cyclic attacks of skin peeling of the palms and soles over 1.5 years. The skin peeling was associated with hypercalciuria. No mutation was present in TGM5 and CSTA genes, but the typical clinical picture and the biopsy from flaccid blisters on the feet confirmed the acral peeling skin syndrome (APSS). The possible associations ...
متن کاملAcral peeling skin syndrome in two East-African siblings: case report
BACKGROUND Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. CASE PRESENTATION We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. This peeling was more severe o...
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EGFR is a key molecule in cancer cells. EGFR signaling was shown to promote tumor cell proliferation and survival, invasion and angiogenesis and mediate resistance to treatment, including ionizing radiation in preclinical models. We extracted proteins from astrocytoma (III and IV) oligodendroglioma(IV) tumors and normal brain tissues and then evaluated the protein purity by Bradford test ...
متن کاملAcral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy
The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands ...
متن کاملPeeling skin syndrome
The coexistence of neurofibromatosis with partial unilateral lentigines raises the possibility that partial unilateral lentigines could be a variant or forme fruste of segmental neurofibromatosis. Our patient had no cutaneous lesions of neurofibromatosis but had bilateral Lisch nodules in the eyes. Since Lisch nodules are characteristic of neurofibromatosis, we conclude that the partial unilate...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2016
ISSN: 0022-202X
DOI: 10.1016/j.jid.2016.06.111