ichthyosis/cefalea

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The hereditary syndrome of thrombocytopathia, bleeding tendency, extreme miosis, muscular fatigue, asplenia, headache, etc. ("Stormorken's syndrome"): I. The headache.

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A new, autosomal dominantly inherited syndrome with a bleeding disorder was described in 1985 by Stormorken and his co-workers. In this multifaceted syndrome, there were the following integral components: thrombocytopathia, extreme miosis with Argyll Robertson-like traits, muscular fatigue, a

Myelopathy and adult T-cell leukemia associated with HTLV-1 in a young patient with hearing loss as the initial manifestation of disease.

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A young male developed hearing loss, vertigo, headache and facial palsy. Neurological examination did not show any abnormalities. Two years later, cervical lymphadenopathy, hepatosplenomegaly and atypical lymphocytes in peripheral blood revealed leukemia. At the same time, acquired ichthyosis was

DNA repair gene variants in migraine.

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OBJECTIVE Migraine is a common and debilitating episodic disorder characterized by recurrent headache attacks associated with autonomic symptoms. It affects an estimated 12% of the population. The etiology of the underlying neurodegenerative process is widely unknown; however, oxidative stress is a

Safe and effective use of Alitretinoin in Children with recalcitrant hand eczema and other dermatoses - a retrospective analysis.

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Alitretinoin is a systemic retinoid licensed for use in adult patients suffering from chronic hand eczema recalcitrant to potent topical steroids. Experience with its use in childhood is lacking.To report on the efficacy and safety of alitretinoin treatment

[Stormorken's syndrome].

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In 1985, a new syndrome with the following characteristics was described: thrombopathia, thrombopenia, asplenia, miosis, headache, ichthyosis, dyslexia, muscle defect, and subsequently also hypocalcaemia. Skin and deep bleedings, leg spasms, disturbed dark vision and dyslexia are main worries. This

Pharmacokinetics and pharmacodynamics of 9-cis-retinoic acid in healthy men.

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A double-blind, placebo-controlled, randomized study using single ascending oral doses of 5 mg, 15 mg, 40 mg, 80 mg, and 150 mg of 9-cis-retinoic acid was performed to assess the single-dose pharmacokinetics, tolerability, and pharmacodynamic effects of 9-cis-retinoic acid in healthy men. Forty

A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc. Pupillometric, evaporimetric, and ophthalmological observations.

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A recently described familiar syndrome consists of the following components: A bleeding tendency with thrombocytopathia, miosis, muscular weakness and spasms, ichthyosis, asplenia, dyslexia, and headache. Four definite and 2 probable patients have been identified in 4 generations. In the present

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.

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Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N

[Muscle involvement of Stormorken's syndrome].

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We described two patients, a mother and daughter, of Stormorken's syndrome. The syndrome is characterized clinically by autosomal dominant inheritance, congenital miosis, thrombocytopenia, asplenia and muscle weakness. Both patients had bleeding tendency, ichthyosis of arms, and muscle weakness. The

A dominant STIM1 mutation causes Stormorken syndrome.

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Stormorken syndrome is a rare autosomal-dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. A heterozygous missense mutation in STIM1 exon 7 (c.910C>T; p.Arg304Trp) (NM_003156.3) was

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