Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report. [PDF]
Pharmgenomics Pers Med, 2022 Zeng J, Shan B, Guo L, Lv S, Li F.
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Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases
Indian Journal of Paediatric Dermatology, 2016 Lamellar ichthyosis (LI) is a rare skin disorder inherited as an autosomal recessive trait. Affected babies are born in a collodion membrane that sheds gradually revealing extensive scaling of the skin.
K Pratyusha, P Divya Sree, BSN Reddy
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Lamellar Ichthyosis: A Rare Mucocutaneous Disease [PDF]
Journal of Krishna Institute of Medical Sciences University, 2019 Lamellar Ichthyosis is a rare genodermatotic condition, which occurs due to the mutation in the transglutaminase-1gene. It is a rare disease with a global prevalence of 1 in 300000 live births with no specific gender predilection.
Yogesh Chhaparwal +3 more
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A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report [PDF]
Journal of International Medical ResearchAutosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane ...
Wang Lixiang +4 more
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Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments. [PDF]
Ann Dermatol, 2023 Autosomal recessive congenital ichthyosis (ARCI) represents a type of erythroderma, widespread skin scaling at birth, with a reported prevalence of ~1 ...
Yun DK +5 more
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Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft. [PDF]
JAAD Case Rep, 2018 Kempton DM +3 more
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High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis [PDF]
Healthcare, 2023 Lamellar ichthyosis (LI) is a genodermatosis that injures the structure and function of the skin, affecting the appearance and self-esteem of patients, which may seriously impair their mental health and quality of life.
Hernán Cortés +11 more
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Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report. [PDF]
Am J Case Rep, 2022 Patient: Female, newborn Final Diagnosis: Ectropion in lamellar ichthyosis Symptoms: Entropion • parchment-like scales • dry eyes Medication: — Clinical Procedure: Ophthalmological and dermatological follow-up Specialty: Ophthalmology Objective: Rare ...
Moustaine MO +3 more
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Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2 [PDF]
Journal of the European Academy of Dermatology and Venereology, 2022 Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis.
Leonie Frommherz +11 more
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Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation. [PDF]
Indian J Ophthalmol, 2022 Cite this article as: Dhakshini LS, Rashmita R, Christy JS. Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation. Indian J Ophthalmol 2022;70:2628-9. This is an open access journal, and articles are distributed under the terms of
Dhakshini LS, Rashmita R, Christy JS.
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