Results 31 to 40 of about 632 (150)
Síndrome de Netherton: relato de caso
Residência Pediátrica, 2023 INTRODUCTION: Netherton Syndrome (NS), one of the most serious disorders of cornification, is an autosomal recessive disease characterized by a mutation in the SPINK5 gene on chromosome 5q32.
Sabrina Hernandes Conceição +3 more
doaj +1 more source
Hypothyroidism Presenting As Sever Icthyosis and Acanthosis Nigricans
Journal of Medical Science And clinical Research, 2017 null null, Dr Gopinath Dubey
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Case Reports in Immunology, Volume 2020, Issue 1, 2020., 2020 IPEX (immune dysregulation‐polyendocrinopathy‐enteropathy‐X‐linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3 gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune‐suppressive actions which can in turn cause autoimmune and inflammatory ...
Ali Al Maawali +7 more
wiley +1 more source
X-linked icthyosis. A sulphatase deficiency. [PDF]
Archives of Disease in Childhood, 1978 In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity.
G, Koppe +4 more
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Lamellar Icthyosis: A Clinical Dilemma
Asian Journal of Clinical Pediatrics and Neonatology, 2018 Congenital Autosomal recessive ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems. This case report presents involvement of respiratory system and its management with outcome in a rather uncommon presentation of lamellar icthyosis.
Amar Verma, Rani Manisha, R. K. Narayan
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Unilateral megalocornea associated with Fuchs' heterochromic iridocyclitis
TNOA Journal of Ophthalmic Science and Research, 2019 Fuchs' heterochromic iridocyclitis is an atypical form of chronic nongranulomatous anterior uveitis and is almost always unilateral. It presents with cataract, mild anterior chamber reaction, diffuse stellate keratic precipitates, absence of posterior ...
Muthukrishnan Vallinayagam +3 more
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Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2‐Year‐Old Patient
Case Reports in Dentistry, Volume 2014, Issue 1, 2014., 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis.
Kavitha Ramar +6 more
wiley +1 more source
A rare case report on colloidion baby syndrome with severe ectropion in neonates [PDF]
, 2016 Colloidion baby is a name given to baby born yellow, scaly wax like covering the baby. It is also known as lamellar icthyosis and is an inherited disorder present through birth. The disorder is a social stigma to the society.
Bhatia, Manvi, Kumar, Prashant
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Harlequin fetus – Icthyosis fetalis: Case report [PDF]
, 2021 We are presenting a newborn with a very rare and most severe form of congenital ichthyosis that is characterized by a thick, heavily keratinized and scaly skin.
Senai Sereke +2 more
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Clinical and Translational Medicine, Volume 2, Issue 1, December 2013., 2013 Abstract Background Previous studies of epidermal kinetics in psoriasis have relied on invasive biopsy procedures or the use of radioactive labels. We previously developed a non‐invasive method for measuring keratin synthesis in human skin using deuterated water labeling, serial collection of tape strips and measurement of deuterium enrichment in ...
Claire L Emson +7 more
wiley +1 more source