Menkes kinky hair disease

Choudhary, Sanjiv; Gadegone, Rutuja W; Koley, Sankha

doi:10.4103/0019-5154.100503

Cited by 11 publications

(8 citation statements)

References 10 publications

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“…Skin and hair abnormalities are the most striking signs in MD. In our case, light microscope of scalp hair revealed trichorrehexis nodosa, a condition that has also been documented in previous report,28 while pili torti (hair shaft twisted 180 0 ) is more commonly found in patients 29. Low serum levels of copper and ceruloplasmin are usually seen in this disease.…”

Section: Discussionsupporting

confidence: 87%

Copper-histidine therapy in an infant with novel splice-site variant in theATP7Agene of Menkes disease: the first experience in South East Asia and literature review

et al. 2022

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Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy and delayed development. Magnetic resonance imaging (MRI) of brain demonstrated multiple tortuosities of intracranial vessels and brain atrophy. Investigation had showed markedly decreased serum copper and ceruloplasmin. The novel c.2172+1G>T splice-site mutation in the ATP7A gene confirmed MD. He was treated with subcutaneous administration of locally prepared copper-histidine (Cu-His). Following the therapy, hair manifestation was restored and serum ceruloplasmin was normalised 1 month later. Despite the treatment, epilepsy, neurodevelopment and osteoporosis still progressed. He died from severe respiratory tract infection at the age of 9.5 months. These findings suggest that the benefit of Cu-His in our case is limited which might be related to severe presentations and degree of ATP7A mutation.

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Section: Discussionsupporting

confidence: 87%

Copper-histidine therapy in an infant with novel splice-site variant in theATP7Agene of Menkes disease: the first experience in South East Asia and literature review

et al. 2022

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“…23 , 24 The “kinky hair” in Menkes disease is a conspicuous feature clinically, and the hair appears coarse, sparse, short, twisted, and hypopigmented. 24 , 25 However, metaphyseal fragmentation and subperiosteal reactive bone on conventional radiographs in Menkes disease could be misinterpreted as stigmata of non-accidental trauma. 26 The findings of Menkes disease, caused by an X-linked recessive mutation in the copper transporter gene ATP7A, may overlap with clinical signs of child abuse, including rib fractures.…”

Section: Questions/discussion Points Partmentioning

confidence: 99%

Educational Case: Osteogenesis imperfecta

2022

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“…The defective protein is a copper-binding ATPase, ATP7A. 34,35 A seven-year-old female patient of incontinentia pigmenti presented with hyperpigmented blashckoid lesions on the trunk and extremities. The diagnosis was considered due to history of evolution of the typical lesions associated with this condition.…”

Section: Discussionmentioning

confidence: 99%

Clinico-epidemiological study of genodermatoses in pediatric age group

et al. 2019

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Background: Genetic diseases causing abnormalities in structure and/or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.Methods: A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous/extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.Results: Out of 4032 pediatric patients, 35 were found to have genodermatoses. Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.Conclusions: Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.

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Menkes kinky hair disease

Cited by 11 publications

References 10 publications

Copper-histidine therapy in an infant with novel splice-site variant in theATP7Agene of Menkes disease: the first experience in South East Asia and literature review

Copper-histidine therapy in an infant with novel splice-site variant in theATP7Agene of Menkes disease: the first experience in South East Asia and literature review

Educational Case: Osteogenesis imperfecta

Clinico-epidemiological study of genodermatoses in pediatric age group

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