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13 Possible Causes for Cataract, Cornified Cell Envelope, Palmar Hyperlinearity

  • Ichthyosis Vulgaris

    PLATANUS OCCIDENTALIS 30 —Platanus occidentalis is prescribed for X linked ichthyosis with corneal opacity and cataract .[] The main characteristics of IV are fine-scale on the arms and legs, palmar hyperlinearity, and keratosis pilaris.[] The resultant matrix is cross-linked to form a major component of the cornified cell envelope.[]

  • Atopic Dermatitis

    After routine cataract surgery, the anterior subcapsular cataractous tissue was obtained as an anterior capsulorhexis flap and prepared as a wholemount for histological analysis[] Among patients, reduced level of monomeric filaggrin and NMF correlated with the presence of FLG mutations and clinical phenotypes such as xerosis, palmar hyperlinearity and[] A major predisposing factor for AD is the existence in many patients of a mutation in the gene encoding for the filaggrin protein, which is a component of the cornified cell[]

  • Ichthyosis

    Transglutaminase activity in normal human lenses and senile cataract. Ann Clin Lab Sci 1995; 25 : 236–240.[] Palms and soles show accentuated creases and when affecting the palms this sign is referred to as palmar hyperlinearity or as “ichthyosis palms”.[] cell envelope assembly and subsequent epidermal barrier formation.[]

  • Peeling Skin Syndrome Type A

    […] meningitis Asperger syndrome asphyxiating thoracic dystrophy Asrar Facharzt Haque Syndrome Astley-Kendall Syndrome Asymmetric Short Stature Syndrome Ataxia-Microcephaly-Cataract[] Palmar and plantar areas are spared or present erythema, slight thickening of the skin or palmar hyperlinearity. An underlying erythroderma is present.[] A shortage of transglutaminase 5 weakens the cornified cell envelope, which allows the outermost cells of the epidermis to separate easily from the underlying skin and peel[]

  • Inherited Ichthyosis

    Retinitis pigmentosa Peripheral neuropathy ataxia PAHX/Phytanol-CoA alpha-hydroxylase Elevation of plasma phytanic acid levels Dorfman Chanarin syndrome AR Hepatomegaly Myopathy Cataracts[] […] keratoderma in LK ( LOR ). ( f ) Palmar hyperlinearity in IV ( FLG ). ( g ) Generalized fine scaling phenotype with concomitant severe erythema in NS ( SPINK5 ). ( h ) Onychoschisis[] […] chromosome 19q13.2-q13.3 Encodes the basal transcription/DNA repair factor IIH Clinical Presentation: Syndromic Photosensitivity Ichthyosis Intellectual impairment Short stature Cataracts[]

  • Congenital Non-Bullous Ichthyosiform Erythroderma ARCI2

    Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay[] hyperlinearity were observed.[] Pruritus is often severe; presence of atopic epicanthal fold of the lower eyelid and atopic cataract are other clues for diagnosis of erythroderma due to atopic dermatitis[]

  • Autosomal Recessive Congenital Ichthyosis Type 4

    Bilateral Severe Ectropion and Mature Cataract in Lamellar ichthyosis. J North Zone Ophthalmolog Soc 2004;14:34-6. 3. Boparai MS, Dash RG, Sohi BK.[] When examined at 2–37 years of age, all patients exhibited skin xerosis, fine or focal scaling (Fig. 1c), palmar hyperlinearity or keratoderma, and frequent occurrence of[] Am-J-Pathol. 1997 Jul; 151(1): 293-310 Akiyama,-M; Shimizu,-H; Yoneda,-K; Nishikawa,-T Collodion baby: ultrastructure and distribution of cornified cell envelope proteins[]

  • Acquired Ichthyosis

    […] dominant keratitis-ichthyosis-deafness syndrome autosomal recessive congenital ichthyosis bullous congenital ichthyosiform erythroderma Camptodactyly-Ichthyosis Syndrome Cataract[] The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and dry, scaly skin.[] This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier ...[]

  • Congenital Non-Bullous Ichthyosiform Erythroderma ARCI 10

    601718); cone–rod dystrophy 3 (CORD3; MIM 604116); macular degeneration age-related 2 (ARMD2; MIM 153800); ATP-binding cassette, subfamily A, member 4 (ABCA4; MIM 601691); cataract[] When examined at 2–37 years of age, all patients exhibited skin xerosis, fine or focal scaling (Fig. 1c), palmar hyperlinearity or keratoderma, and frequent occurrence of[] Electron microscopy revealed a cornified cell envelope like that seen in harlequin ichthyosis (HI; see {242500}), suggesting that cornified cell envelope is not a specific[]

  • Anonychia with Flexural Pigmentation

    Ataxia Cataract Hypogonadism Defect in Hartnup Disease?[] hyperlinearity, keratosis pilaris • Pityriasis alba • Nipple eczema • White dermatographism and delayed blanch response • Anterior subcapsular cataracts, keratoconus • Elevated[] , the latter contributing 70–85% to the mass of the cornifi ed cell envelope; it also contains several lipids (fatty acids, sterols and ceramides) released from lamellar bodies[]

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