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56 Possible Causes for Mild Lamellar Ichthyosis

  • Lamellar Ichthyosis

    The severity of congenital recessive ichthyosis ranges from severe (‘classic’ lamellar ichthyosis) to mild (mild lamellar ichthyosis, mild non-bullous congenital ichthyosiform[genedx.com] The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis (LI).[ncbi.nlm.nih.gov] Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe. J Dermatol Sci 2013; 72: 197–199. 10.[medicaljournals.se]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    […] or severe forms of renal tubular disorder, and severe lamellar ichthyosis [3].[ijcasereportsandimages.com] […] and Landolt, and in 1979, Nezeloff described new clinicopathologic findings [1] [2] Most cases present arthrogryposis multiplex congenita, neonatal cholestatic jaundice, mild[ijcasereportsandimages.com]

  • Perinatal Lethal Gaucher Disease

    In at least 10% of cases, the collodion baby phase is followed by a relatively mild ichthyosis of lamellar type; this may be so mild as to be considered more or less normal[blackwellreference.com] The two most common underlying diseases are: Lamellar ichthyosis Non- bullous congenital erythroderma Other rarer conditions include: Sjögren Larsson syndrome Gaucher Disease[dermnetnz.org] However, 10% of collodion babies have normal underlying skin – a mild presentation known as ‘self-healing’ collodion baby.[dermnetnz.org]

  • Hereditary Hyperekplexia

    ichthyosis OMIM mapping confirmed by DO.[amp.pharm.mssm.edu] Sensorineural deafness with mild renal dysfunction Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Hypomyelination, global cerebral Niemann-Pick disease type C2 Niemann-Pick[amp.pharm.mssm.edu] Infantile liver failure syndrome 2 Neurodegeneration with brain iron accumulation 2b Dystransthyretinemic euthyroidal hyperthyroxinemia NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM Lamellar[amp.pharm.mssm.edu]

  • Keratitis-Ichthyosis-Deafness Syndrome
  • Congenital Ichthyosis

    Depending on which gene mutation causes the disease, the skin problems later in life may range from a severe lamellar or bullous ichthyosis to mild or only focally expressed[ncbi.nlm.nih.gov] HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE).[ncbi.nlm.nih.gov] ; thickening of palms, soles and flexures common; may have overlap with ARCI-lamellar ichthyosis type due to shared gene mutations hair: normal or sparse; abnormal-appearing[firstskinfoundation.org]

  • Palmoplantar Keratosis

    ichthyosis shows marked hyperkeratosis (which may be extreme in the collodion baby) and mild acanthosis with a normal or thickened granular cell layer ( Fig. 3.21 ).[basicmedicalkey.com] In nonerythrodermic phenotype of lamellar ichthyosis the scales are large, dark and platelike and cover the entire body including the palms, soles, scalp, and flexures. 5[basicmedicalkey.com] […] ectropion and eclabium may be complications and palmoplantar keratoderma is often more severe than in noneyrthrodermic forms of AR-lamellar ichthyosis. 3 Exceptionally, congenital[basicmedicalkey.com]

  • Diffuse Palmoplantar Keratoderma

    […] and varibale parakeratosis Lamellar Ichthyosis, Sjogren-Larsson Syndrome skin biopsy none Dyskeratosis congenita DKC, Dyskeratosis congenita, Scoggins type 757.4 Most common[dermatologyadvisor.com] Lifelong erythroderma, scaling Variable palmoplantar involvement Birth Yes No I No moderate hyperkeratosis, normal/slightly thickened granular cell layer, mild acanthosis,[dermatologyadvisor.com] […] soles Diffuse spikey hyperkeratosis, erythematous patches Birth Yes No H, N, I E Excess formation of mucous-containing granules, reductions of tonofilaments KID Syndrome, Lamellar[dermatologyadvisor.com]

  • X-Linked Ichthyosis

    Clinically, XLRI may resemble ichthyosis vulgaris or mild lamellar ichthyosis. [1] Erythroderma is commonly seen in lamellar ichthyosis and non-bullous ichthyosiform erythroderma[e-ijd.org] X-linked ichthyosis is considered one of the five main types of ichthyosis (the others being lamellar ichthyosis, congenital ichthyosiform erythroderma, ichthyosis vulgaris[firstskinfoundation.org] They are usually of no functional significance but a minority suffer from mild keratitis. [6], [7], [8], [9] Pregnancies often ended in prolonged labor, and the underlying[e-ijd.org]

  • X-Linked Spastic Paraplegia Type 34

    Rare skin disease Rare eye disease 3 0 0 Lamellar ichthyosis Rare skin disease Rare eye disease 3 0 0 Lamellar ichthyosis Rare skin disease Rare eye disease 3 0 0 Mild hemophilia[mousebook.org] […] obstetric disease 1 0 0 Familial paroxysmal ataxia Rare neurologic disease 1 0 0 Recurrent Neisseria infections due to factor D deficiency Rare immune disease 1 0 0 Lamellar ichthyosis[mousebook.org]

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