Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Intramelanocytic lipid droplets have been observed in 12 patients with different types of hypermelanosis of the skin. These include drug-induced hypermelanosis, hypermelanosis secondary to use of physical agents, hypermelanotic morphea, generalized scleroderma with diffuse hypermelanosis, a hyperkeratotic tumor in xeroderma pigmentosum, aberrant mongolian spot, and methoxsalen-ultraviolet-A-induced hypermelanosis. Lipid storage was selectively observed in melanocytes. Most of the melanocytes with lipid vacuoles showed ultrastructural signs of hyperactive melanosome synthesis and certain cytoplasmic abnormalities such as melanosomal autophagic vacuole formation and mitochondrial alterations. The importance and the origin of the lipid droplets remain unclear.
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PMID:Cutaneous hypermelanosis and intramelanotic lipid droplets. 736 47

Background: In recent studies, N-acetylcysteine has been shown to be efficacious in several dermatologic conditions. Objective: The aim was to review clinical trials that assess the efficacy of N-acetylcysteine in cutaneous disorders. Design: The PubMed database was searched and a manual search of clinical trials in the references was performed. Studies included randomized, controlled studies, uncontrolled studies, meta-analyses, and systemic reviews published between years 1966 and 2017. Results: Efficacy of N-acetylcysteine was shown in excoriation disorder, onychophagia disorder, trichotillomania, acne vulgaris, Type I lamellar ichthyosis, bullous morphea, systemic sclerosis, toxic epidermal necrolysis, atopic dermatitis, xeroderma pigmentosum, and pseudoporphyria. Studies also show benefits in wound healing and photoprotection. Conclusion: The review of available literature suggests that N-acetylcysteine could potentially serve as a safe, tolerable, and effective therapeutic option for a variety of dermatologic conditions.
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PMID:The Potential Uses of N-acetylcysteine in Dermatology: A Review. 3132 Sep 73