Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino
Indian Journal of Dermatology, 2009 A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration.
Ramalingam Vijaya +2 more
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Albinism : a case report [PDF]
, 1973 Albinism means the absence of cutaneous pigments. This is a rare hereditary disorder of the skin found in all races. The basic defect is an inherent deficiency of the enzyme tyrosinase usually found in melanocytes. Albinism can be total or partial.
Psaila, Angelo J.
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In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. [PDF]
, 2015 Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available.
Candotti, F. +7 more
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Hermansky-Pudlak syndrome: A case report
The Journal of Association of Chest Physicians, 2014 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin).
R Vani, S Keertihvasan, K Anbananthan
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The effect of visual impairment on quality of life of children aged 3-16 years [PDF]
, 2010 Background: It is well known that visual impairment (VI) has a detrimental effect on Quality of Life (QoL) in adults. Little is known about the effects of VI in childhood. Aims: To evaluate the effects of VI on QoL of children.
Chadha, R. K., Subramanian, A.
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Two Cases of Foveal Hypoplasia with Different Etiologies
Beyoglu Eye Journal, 2017 In this report the optical coherence tomography (OCT) findings of 2 patients with foveal hypoplasia are presented. One patient had oculocutaneous albinism, which is a frequent cause of foveal hypoplasia, and had decreased visual acuity in both eyes.
Abdullah Ozkaya, Hatice Nur Tarakcioglu
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The Tyr ( albino ) locus of the laboratory mouse [PDF]
, 2018 The albino mouse was already known in ancient times and was apparently selectively bred in Egypt, China, and Japan. Thus, it is not surprising that the c or albino locus (now the Tyr locus) was among the first used to demonstrate Mendelian inheritance in
Beermann, Friedrich +2 more
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Chédiak-Higashi syndrome: presentation of seven cases
São Paulo Medical JournalCONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism.
Eugénia Maria Grilo Carnide +5 more
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Femtosecond laser assisted keratoplasty combined with cataract extraction in a patient with keratoconus and oculocutaneous albinism [PDF]
, 2021 Fodor, Mariann +3 more
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
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