Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, phlebothrombosis, hypertension, antithrombin III deficiency, factor V Leiden disease, chronic obstructive lung disease, tinnitus, diarrhea, recurrent abdominal pain, headache, and depressive mood. He was treated with intravenous substitution of the deficient enzyme alpha-galactosidase A. Possible future options in treatment of Fabry disease are discussed.
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PMID:Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. 1761 Jun 10

Acne vulgaris, hirsutism, seborrhea and female pattern hair loss (FPHL) are common disorders of the pilosebaceous unit (PSU). In some women with hyperandrogenemia, an excess of androgens at the PSU can lead to the development of these dermatological manifestations. These manifestations can cause many psychiatric and psychological implications, such as social fears and anxiety, and can adversely affect quality of life. High androgen levels at the PSU as a possible underlying cause of acne vulgaris, hirsutism, seborrhea and FPHL supports the rationale for using combined oral contraceptives for the management of these conditions in women. The purpose of this review is to describe these dermatological manifestations of the PSU and the management of these conditions through the use of the oral contraceptive ethinylestradiol/chlormadinone acetate (EE/CMA). EE/CMA 0.03/2 mg is a combined monophasic contraceptive pill with anti-androgenic properties. It is approved in Europe for contraception and has been investigated in phase III trials for the treatment of acne. EE/CMA was better than placebo and similar to another low-dose oral contraceptive (ethinylestradiol/levonorgestrel) in improving symptoms of acne in two phase III randomized controlled trials in patients with mild to moderate papulopustular acne. In addition, in trials investigating the contraceptive efficacy of EE/CMA, limited data suggest that there were also improvements in hirsutism, FPHL and seborrhea in small subgroups of patients. EE/CMA has a good safety profile. The most commonly reported adverse events are breast tenderness/pain, headache/migraine and nausea. Evidence in the literature indicates that the use of EE/CMA for the treatment of dermatological disorders under the control of androgens may be a valid treatment option. Further investigation is warranted.
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PMID:Ethinylestradiol/Chlormadinone acetate: dermatological benefits. 2189 44

Pityriasis rosea is a common self-limiting rash that usually starts with a herald patch on the trunk and progresses along the Langer lines to a generalized rash over the trunk and limbs. The diagnosis is based on clinical and physical examination findings. The herald patch is an erythematous lesion with an elevated border and depressed center. The generalized rash usually presents two weeks after the herald patch. Patients can develop general malaise, fatigue, nausea, headaches, joint pain, enlarged lymph nodes, fever, and sore throat before or during the course of the rash. The differential diagnosis includes secondary syphilis, seborrheic dermatitis, nummular eczema, pityriasis lichenoides chronica, tinea corporis, viral exanthems, lichen planus, and pityriasis rosea-like eruption associated with certain medications. Treatment is aimed at controlling symptoms and consists of corticosteroids or antihistamines. In some cases, acyclovir can be used to treat symptoms and reduce the length of disease. Ultraviolet phototherapy can also be considered for severe cases. Pityriasis rosea during pregnancy has been linked to spontaneous abortions.
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PMID:Pityriasis Rosea: Diagnosis and Treatment. 2936 41


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