Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.12.2 (MEK)
 18,161 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

CFC syndrome is a genetically heterogenous condition. Missense mutations have been identified in BRAF, KRAS, MEK1 and MEK2. We have reported here a KRAS mutation in a baby girl with an early clinical diagnosis of CFC syndrome associated with a large ulcerating hemangioma. Although ectodermal abnormalities have been described in all individuals with this condition, features such as ichthyosis and hemangioma have been previously found only in those patients carrying a mutation in BRAF, and not in KRAS. The findings we have described contrast with these observations. The relatively high frequency of hemangiomas in CFC syndrome suggests that defects in the expression of the MAPK pathway may alter endothelial cell proliferation. Increased understanding of how the molecular pathways with which defects in CFC syndrome predispose affected individuals to hemangiomas might offer insights into the pathogenesis of this common childhood tumour in the general population.
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PMID:Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. 1755 39

The year 2017 in pediatric dermatology was marked by several consensus recommendations and meta analyzes on childhood psoriasis, atopic dermatitis or PHACE syndrome, case series on the role of anti-JAK treatment in adolescent with alopecia areata, sirolimus for vascular malformations, ivermectine for rosacea, inhibitors of MEK for type 1 neurofibromatosis or on the side effects of the oral isotretinoin for acne or propranolol for immature hemangioma. Only few randomized controlled studies have been published on the interest of adalimumab in the treatment of psoriasis or topical sirolimus for angiofibroma in tuberous sclerosis complex for example. There were also clinical articles on various affections such as the sign of the scalp hair collar sign, childhood prurigo, ichthyosis, atopic dermatitis, warts or Zika virus infection. Finally, numerous publications reported new genes responsible for dermatosis in mosaics with new questionings and perspectives.
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PMID:[What's new in pediatric dermatology?] 2924 50