Disorders of Epidermal Appendages

Mapping Intimacies ◽

10.1093/med/9780190276478.003.0003 ◽

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.

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Disorders of Epidermal Appendages

10.1093/med/9780195397666.003.0003 ◽

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

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Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease

Skin Appendage Disorders ◽

10.1159/000518368 ◽

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.

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The diagnosis of metabolic storage disease in skin biopsies (a light-, electronmicroscopic, and analytical study)

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100084119 ◽

1978 ◽

Vol 36 (2) ◽

pp. 648-649

Author(s):

W. Jurecka ◽

W. Gebhart ◽

H. Lassmann

Keyword(s):

Storage Disease ◽

Hunter Syndrome ◽

Histochemical Demonstration ◽

Sweat Glands ◽

Type I ◽

Storage Material ◽

Scheie Syndrome ◽

Storage Products ◽

Skin Biopsies ◽

Type V

Diagnosis of metabolic storage disease can be established by the determination of enzymes or storage material in blood, urine, or several tissues or by clinical parameters. Identification of the accumulated storage products is possible by biochemical analysis of isolated material, by histochemical demonstration in sections, or by ultrastructural demonstration of typical inclusion bodies. In order to determine the significance of such inclusions in human skin biopsies several types of metabolic storage disease were investigated. The following results were obtained.In MPS type I (Pfaundler-Hurler-Syndrome), type II (Hunter-Syndrome), and type V (Ullrich-Scheie-Syndrome) mainly “empty” vacuoles were found in skin fibroblasts, in Schwann cells, keratinocytes and macrophages (Dorfmann and Matalon 1972). In addition, prominent vacuolisation was found in eccrine sweat glands. The storage material could be preserved in part by fixation with cetylpyridiniumchloride and was also present within fibroblasts grown in tissue culture.

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Ultrastructural Features of Normal and Diseased Hair Revealed by Ion Beam Etching and Freeze Fracture

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100115419 ◽

1975 ◽

Vol 33 ◽

pp. 358-359

Author(s):

M. Spector ◽

A. C. Brown

Keyword(s):

Electron Microscopy ◽

Scanning Electron Microscopy ◽

Ectodermal Dysplasia ◽

Ion Beam ◽

Freeze Fracture ◽

Ion Current ◽

Ion Beam Etching ◽

Pili Torti ◽

Argon Ion ◽

Scanning Electron

Ion beam etching and freeze fracture techniques were utilized in conjunction with scanning electron microscopy to study the ultrastructure of normal and diseased human hair. Topographical differences in the cuticular scale of normal and diseased hair were demonstrated in previous scanning electron microscope studies. In the present study, ion beam etching and freeze fracture techniques were utilized to reveal subsurface ultrastructural features of the cuticle and cortex.Samples of normal and diseased hair including monilethrix, pili torti, pili annulati, and hidrotic ectodermal dysplasia were cut from areas near the base of the hair. In preparation for ion beam etching, untreated hairs were mounted on conducting tape on a conducting silicon substrate. The hairs were ion beam etched by an 18 ky argon ion beam (5μA ion current) from an ETEC ion beam etching device. The ion beam was oriented perpendicular to the substrate. The specimen remained stationary in the beam for exposures of 6 to 8 minutes.

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Full Mouth Fixed Rehabilitation of a Young Adult with Ectodermal Dysplasia: Making Mountain Out of a Molehill in The Literal Sense

Journal of Dentistry and Oral Sciences ◽

10.37191/mapsci-2582-3736-2(2)-030 ◽

2020 ◽

Author(s):

Vaishnavi Rajaraman

Keyword(s):

Ectodermal Dysplasia ◽

Treatment Plan ◽

Sweat Glands ◽

Congenital Diseases ◽

Facial Esthetics ◽

Key Factor ◽

Full Mouth Rehabilitation ◽

Fixed Prosthesis ◽

Multiple Abnormalities ◽

Hereditary Condition

The personality of an individual is often judged by his looks. A beautiful smile brings immense pleasure, not only to the viewer but also to the wearer of the smile. Time and again in dentistry, esthetics has been the prime area of focus. Prosthodontic rehabilitation also involves esthetics as its key factor, which is challenging especially in patients with congenital diseases or syndromes. Ectodermal dysplasia is one such hereditary condition associated with failure of the development of ectoderm in the embryonic stage and can cause multiple abnormalities. The ectodermal structures like skin, nails, hair, sweat glands, and teeth are particularly affected. The management of ectodermal dysplasia is quite complex and multidisciplinary owing to the abnormal morphology in craniofacial structures, a wide array of dentofacial defects, and age of the affected individuals, as most of them are very young when they report for or are evaluated for treatment. The deciduous as well as the permanent dentition in these patients may present with anodontia, hypodontia or oligodontia or combination of these. Hypodontia is one of the most common intraoral finding among these scenarios. Therefore, the affected patients obviously require absolute attention towards prosthodontic treatments throughout their developmental years till their adulthood. This report presents a case of an adult diagnosed with having ectodermal dysplasia with hypodontia. By appropriate modification and customization, the prosthodontic management was meticulously planned for the young patient which involved a full mouth rehabilitation with tooth supported fixed prosthesis in the maxillary and mandibular arch. The devised treatment plan had a key impact on the psychological, the masticatory function, speech and facial esthetics of the patient.

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A Familial Case of Trichorhinophalangeal Syndrome Type I

Pediatric Dermatology ◽

10.1111/j.1525-1470.2009.00905.x ◽

2009 ◽

Vol 26 (2) ◽

pp. 171-175 ◽

Cited By ~ 5

Author(s):

Mario Vaccaro ◽

Fabrizio Guarneri ◽

Olga Barbuzza ◽

Michele Gaeta ◽

Claudio Guarneri

Keyword(s):

Familial Case ◽

Type I ◽

Syndrome Type ◽

Trichorhinophalangeal Syndrome

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

Dubai Medical Journal ◽

10.1159/000521155 ◽

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>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.

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