Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby [PDF]
JIMD ReportsHolocarboxylase synthetase (HLCS) is a rare autosomal recessive disorder of biotin metabolism. The mutation spectrum is known to correlate with clinical phenotypes and responsiveness to biotin therapy. Five patients diagnosed with HLCS deficiency between
Siew Li Ting +4 more
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Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review [PDF]
Clinical Case ReportsHarlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care.
Ahmed Alanzi +5 more
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Myelodysplastic Syndrome Presenting as Amegakaryocytic Thrombocytopenia in a Collodion Baby [PDF]
Journal of Investigative Medicine High Impact Case Reports, 2015 We report a rare case of myelodysplastic syndrome that presented early as amegakaryocytic thrombocytopenia in a collodion baby, which is a rare congenital disorder characterized by thick, taut membrane resembling oiled parchment or collodion, which is ...
Mohammed Al Pakra MD +2 more
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Scanning electron microscopy of the collodion membrane from a self-healing collodion baby [PDF]
Anais Brasileiros de Dermatologia, 2015 Self-healing collodion baby is a well-established subtype of this condition. We examined a male newborn, who was covered by a collodion membrane. The shed membrane was examined with scanning electron microscopy.
Hiram Larangeira de Almeida Jr. +4 more
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Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies [PDF]
Journal of Lipid Research, 2022 Self-healing collodion baby (SHCB), also called “self-improving collodion baby”, is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the first 3
Takuya Takeichi +14 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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Collodion Baby with TGM1 gene mutation [PDF]
International Medical Case Reports Journal, 2015 Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D +4 more
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Case report of self-improving collodion ichthyosis in the newborn [PDF]
Journal of International Medical Research, 2023 Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth.
Suyue Zhu +4 more
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Surgical management of the highly edematous conjunctiva due to ectropion in a 3-year-old collodion baby [PDF]
Chinese Medical Journal, 2021 Di Chen, Xiao-Wei Liu, Li-Shao Guo
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