Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease

2021 ◽  
pp. 1-4
Author(s):  
Marimar Sáez-de-Ocariz ◽  
Ana Sylvia Aguilar-Sarmiento ◽  
Maria Adelaida Garcés-Abad ◽  
Paulina Vázquez-Arroyo ◽  
Maria Teresa García-Romero ◽  
...  
Keyword(s):  
Light Microscopy ◽  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Male Infant ◽  
Hair Shaft ◽  
First Year ◽  
Copper Distribution ◽  
Hispanic Male ◽  
Muscle Hypotonia ◽  
Pili Torti

Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the <i>ATP7A</i> gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia – particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.

Disorders of Epidermal Appendages

2017 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Ectodermal Dysplasia ◽  
Menkes Disease ◽  
Hair Shaft ◽  
Sweat Glands ◽  
Type I ◽  
Trichorhinophalangeal Syndrome ◽  
Steatocystoma Multiplex ◽  
Pili Trianguli Et Canaliculi ◽  
Nail Patella Syndrome ◽  
Pili Torti

Chapter 3 starts by covering conditions of the hair, including Alopecias (Loose Anagen Hair, Male Pattern Baldness, and Marie Unna Syndrome), Hirsutism (Gingival Fibromatosis and Hypertrichosis, Hypertrichosis Lanuginosa Congenita, Leprechaunism, and Localized Hypertrichosis), and Hair Shaft Abnormalities (including Monilethrix, Pili Annulati, Pili Torti, Pili Trianguli Et Canaliculi, Trichorrhexis Invaginata, Trichorrhexis Nodosa, Woolly Hair, Menkes Disease, Trichodentoosseous Syndrome, Trichorhinophalangeal Syndrome, and Trichothiodystrophy). It then covers conditions of the nails, including Congenital Malalignment of the Great Toenails, Familial Dystrophic Shedding of the Nails, Leukonychia, Twenty-Nail Dystrophy, Nail-Patella Syndrome, Onychotrichodysplasia and Neutropenia, and Pachyonychia Congenita). Conditions of the Sweat Glands (Hidradenitis Suppurativa, Hyperhidrosis, and Multiple Syringomas), Sebaceous Glands (Eruptive Vellus Hair Cysts, Familial Dyskeratotic Comedones, Oral-Facial-Digital Syndrome Type I, and Steatocystoma Multiplex), and Ectodermal Dysplasia Syndromes (AEC Syndrome, Clouston Syndrome, EEC Syndrome, Focal Facial Ectodermal Dysplasia, GAPO Syndrome, Hypohidrotic Ectodermal Dysplasia, and Tooth and Nail Syndrome) are also covered. Each condition is discussed in detail, including dermatologic features, associated anomalies, histopathology, basic defect, treatment, mode of inheritance, prenatal diagnosis, and differential diagnosis.

Disorders of Epidermal Appendages

2012 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Ectodermal Dysplasia ◽  
Menkes Disease ◽  
Hair Shaft ◽  
Sweat Glands ◽  
Type I ◽  
Trichorhinophalangeal Syndrome ◽  
Steatocystoma Multiplex ◽  
Pili Trianguli Et Canaliculi ◽  
Nail Patella Syndrome ◽  
Pili Torti

Hair – Alopecias – Loose Anagen Hair – Male Pattern Baldness – Marie Unna Syndrome – Hirsutism – Gingival Fibromatosis and Hypertrichosis – Hypertrichosis Lanuginosa Congenita – Leprechaunism – Localized Hypertrichosis – Polycystic Ovarian Disease – Hair Shaft Abnormalities, Isolated – Monilethrix – Pili Annulati – Pili Torti – Pili Trianguli Et Canaliculi – Trichorrhexis Invaginata – Trichorrhexis Nodosa – Woolly Hair – Hair Shaft Abnormalities, Syndromic – Menkes Disease – Trichodentoosseous Syndrome – Trichorhinophalangeal Syndrome – Trichothiodystrophy – Nails – Nail Disorders, Isolated – Congenital Malalignment of the Great Toenails – Familial Dystrophic Shedding of the Nails – Leukonychia – Twenty-Nail Dystrophy – Nail Disorders, Syndromic – Nail-Patella Syndrome – Onychotrichodysplasia and Neutropenia – Pachyonychia Congenita – Sweat Glands – Hidradenitis Suppurativa – Hyperhidrosis – Multiple Syringomas – Sebaceous Glands – Eruptive Vellus Hair Cysts – Familial Dyskeratotic Comedones – Oral-Facial-Digital Syndrome Type I – Steatocystoma Multiplex – Ectodermal Dysplasia Syndromes – AEC Syndrome – Clouston Syndrome – EEC Syndrome – Focal Facial Ectodermal Dysplasia – GAPO Syndrome – Hypohidrotic Ectodermal Dysplasia – Tooth and Nail Syndrome

scholarly journals Menkes Disease- A Rare Neurodegenerative Disorder

2016 ◽  
Vol 35 (2) ◽  
pp. 177-180
Author(s):  
Richa Choudhary ◽  
Anita Choudhary ◽  
S Sitaraman
Keyword(s):  
White Matter Hyperintensities ◽  
Refractory Epilepsy ◽  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Serum Copper ◽  
Progressive Neurodegeneration ◽  
Refractory Seizures ◽  
Sparse Hair ◽  
Pili Torti ◽  
Low Serum

Menkes Disease is a rare neurological disorder of impaired copper transport, characterized by progressive neurodegeneration, refractory epilepsy and characteristic hair abnormalities. Here, we report a 5 month old child with developmental delay, refractory seizures, and hypopigmented short, sparse hair with microscopic pili torti; low serum copper and ceruloplasmin and neuroimaging revealing white matter hyperintensities and tortuous vessels.J Nepal Paediatr Soc 2015;35(2):177-180

scholarly journals A Neonate with Down’s Syndrome and Transient Abnormal Myelopoiesis: Serial Blood and Bone Marrow Studies

Blood ◽  
1970 ◽  
Vol 36 (4) ◽  
pp. 443-447 ◽  
Author(s):  
TAKESHI NAGAO ◽  
BEATRICE C. LAMPKIN ◽  
GEORGE HUG
Keyword(s):  
Bone Marrow ◽  
Marrow Cell ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Male Infant ◽  
First Year ◽  
Electron Microscopic ◽  
Transient Abnormal Myelopoiesis ◽  
Microscopic Studies ◽  
First Year Of Life

Abstract Observations were made of the blood and bone marrow of a male infant with Down’s syndrome during the first year of life. At 4 days of age there were 36,500 myeloblasts/cu.mm. in the blood and 10.8 per cent myeloblasts in the marrow. Initially it appeared the patient had acute myeloblastic leukemia. However, the clinical course and kinetic and electron microscopic studies of his bone marrow cell population indicate he did not have acute leukemia.

scholarly journals Menkes Disease Presenting with Epilepsia Partialis Continua

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Tamer Rizk ◽  
Adel Mahmoud ◽  
Tahani Jamali ◽  
Salah Al-Mubarak
Keyword(s):  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Epilepsia Partialis Continua ◽  
Case Presentation ◽  
Developmental Regression ◽  
Skeletal Changes ◽  
Gene Coding ◽  
Raising Awareness ◽  
Copper Supplementation ◽  
Prolonged Jaundice

Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua.Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua.Discussion. Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Affected individuals usually present with kinky hair, skeletal changes, prolonged jaundice, hypothermia, developmental regression, decreased tone, spasticity, weakness, and therapy resistant seizures.Conclusion. Raising awareness of abnormal presentation of this rare disease may help in the control of seizures through subcutaneous copper supplementation.

scholarly journals Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

2022 ◽  
pp. 1-4
Author(s):  
Nikhil Vikas Pawar ◽  
Fatima Farid Mir
Keyword(s):  
Seizure Activity ◽  
Multidisciplinary Care ◽  
Menkes Disease ◽  
Symptomatic Treatment ◽  
Serum Copper ◽  
Subcortical White Matter ◽  
Acute Onset ◽  
Hair Shaft ◽  
Recurrent Seizure ◽  
Antiepileptic Medications

A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G&#x3e;A p(Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

scholarly journals Menkes' disease: case report

2007 ◽  
Vol 65 (1) ◽  
pp. 157-160 ◽  
Author(s):  
Fabio Agertt ◽  
Ana C.S. Crippa ◽  
Paulo J. Lorenzoni ◽  
Rosana H. Scola ◽  
Isac Bruck ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Background Activity ◽  
Neurodegenerative Disorder ◽  
Epileptiform Activity ◽  
Menkes Disease ◽  
Serum Levels ◽  
Visual Contact ◽  
Disease Case ◽  
Fiber Atrophy

Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair, low serum levels of both copper and ceruloplasmin, brain magnetic resonance study showed atrophy and white matter hypointensities on T1-weighted images, electroencephalogram reveals moderate background activity disorganization and epileptiform activity, and muscle biopsy with type 2 fiber atrophy. The clinical, laboratorial, genetic, muscle biopsy and neurophysiological findings in Menkes’ disease are discussed.

Decreased Incidence of Urinary Tract Infections in Circumcised Male Infants

PEDIATRICS ◽  
1985 ◽  
Vol 75 (5) ◽  
pp. 901-903 ◽  
Author(s):  
THOMAS E. WISWELL ◽  
FRANKLIN R. SMITH ◽  
JAMES W. BASS
Keyword(s):  
Urinary Tract Infection ◽  
Urinary Tract ◽  
Tract Infection ◽  
Urinary Tract Infections ◽  
Male Infant ◽  
Large Cohort ◽  
First Year ◽  
Tract Infections ◽  
First Year Of Life ◽  
Increased Susceptibility

In a recent report of 100 infants less than 8 months of age with urinary tract infection, it was noted that 95% of the male infants were not circumcised.1 The authors speculated from this observation that the uncircumcised male infant may have an increased susceptibility to urinary tract infection, but commented that the incidence of urinary tract infection in uncircumcised compared with circumcised infants was unknown. We report the results of a study documenting the incidence of unnary tract infection during the first year of life in a large cohort of infants born at our institution over an 18-month period and we also document the incidence of urinary tract infection in circumcised compared with uncircumcised male infants.

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease

2019 ◽  
Vol 22 (5) ◽  
pp. 486-491
Author(s):  
Rachel Ng ◽  
Dilharan Eliezer ◽  
Ricardo Vilain ◽  
Benjamin Kamien ◽  
Aniruddh V Deshpande
Keyword(s):  
Genetic Testing ◽  
Child Health ◽  
Connective Tissue ◽  
Iliac Artery ◽  
Artery Aneurysm ◽  
Menkes Disease ◽  
Male Infant ◽  
Neurological Complications ◽  
Iliac Artery Aneurysm ◽  
Nonaccidental Injury

Menkes disease (MD) usually presents in infancy with respiratory and neurological complications. Severe isolated vasculo-connective tissue involvement in infancy is rare, and hence the precise and timely diagnosis is difficult. We report a case of an 8-week-old male infant who succumbed to acute, severe exsanguination, and hemorrhagic shock secondary to a large retroperitoneal hematoma due to rupture of a right iliac artery aneurysm. Perimortem musculoskeletal findings raised suspicion of nonaccidental injury. However, postmortem review of facial traits raised the suspicion of MD. MD was subsequently confirmed on genetic testing. Child health clinicians must remain aware of MD as a rare cause of infant vasculopathy or atypical skeletal abnormalities.

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