A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome

Ichthyoses – Bullous Congenital Ichthyosiform Erythroderma – Continual Peeling Skin – Harlequin Fetus – Ichthyosis Bullosa of Siemens – Ichthyosis Hystrix – Ichthyosis Vulgaris – Lamellar Exfoliation of the Newborn – Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma – Netherton Syndrome – Restrictive Dermopathy – X-linked Recessive Ichthyosis – Erythrokeratodermas – Erythrokeratodermia Variabilis – Pityriasis Rubra Pilaris – Progressive Symmetric Erythrokeratoderma – Acrokeratoderma – Acrokeratoelastoidosis – Acrokeratosis Verruciformis (HOPF) – Hereditary Palmoplantar Keratodermas – Hereditary Palmoplantar Keratoderma with Deafness – Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis – Hereditary Palmoplantar Keratoderma Howel-Evans – Hereditary Palmoplantar Keratoderma Olmsted – Hereditary Palmoplantar Keratoderma Punctate – Hereditary Palmoplantar Keratoderma Striata – Hereditary Palmoplantar Keratoderma Unna-Thost – Hereditary Palmoplantar Keratoderma Vohwinkel – Keratolytic Winter Erythema – Mal de Meleda – Papillon-Lefèvre – Scleroatrophic and Keratotic Dermatosis of the Limbs – Porokeratoses – Porokeratosis of Mibelli – Other Disorders of the Epidermis – Absence of Dermatoglyphics – Acanthosis Nigricans – Darier-White Disease – Hereditary Painful Callosities – Keratosis Follicularis Spinulosa Decalvans – Knuckle Pads – Kyrle/Flegel Disease – Ulerythema Ophryogenes – Syndromic Disorders – CHILD Syndrome – Chondrodysplasia Punctata – Ichthyosis with Hypogonadism – KID Syndrome – Neu-Laxova Syndrome – Neutral Lipid Storage Disease with Ichthyosis – Refsum Disease – Richner-Hanhart Syndrome – Sjögren-Larsson Syndrome – Cohesion – Epidermolysis Bullosa – Epidermolysis Bullosa Simplex Dowling-Meara – Epidermolysis Bullosa Simplex Generalized – Epidermolysis Bullosa Simplex Localized – Epidermolysis Bullosa Junctional Generalized – Epidermolysis Bullosa Junctional Generalized Atrophic Benign – Epidermolysis Bullosa Dystrophica Cockayne-Touraine – Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens – Epidermolysis Bullosa Dystrophica Pretibial – Transient Bullous Dermolysis of the Newborn – Hailey-Hailey Disease

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Netherton Syndrome in Children: Management and Future Perspectives

Frontiers in Pediatrics ◽

10.3389/fped.2021.645259 ◽

2021 ◽

Vol 9 ◽

Author(s):

Federica Barbati ◽

Mattia Giovannini ◽

Teresa Oranges ◽

Lorenzo Lodi ◽

Simona Barni ◽

...

Keyword(s):

Multidisciplinary Approach ◽

Clinical Manifestations ◽

Hair Shaft ◽

Future Perspectives ◽

Limited Data ◽

Netherton Syndrome ◽

Multisystemic Disease ◽

History Of ◽

Set Up ◽

Congenital Ichthyosiform Erythroderma

Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. An early diagnosis is crucial to start the correct management of these patients. A multidisciplinary approach, including specialists in immunology, allergology, and dermatology, is necessary to set up the best therapeutic pathway. We conducted a review with the aim to summarize the different therapeutic strategies currently accessible and potentially available in the future for children with NS. However, given the limited data in the literature, the best-tailored management should be decided upon the basis of the specific clinical characteristics of the patients with this rare clinical condition. Further comprehension of the pathophysiology of the disease could lead to more efficacious specific therapeutic options, which could allow a change in the natural history of NS.

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A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient

Sultan Qaboos University Medical Journal [SQUMJ] ◽

10.18295/squmj.4.2021.047 ◽

2021 ◽

Author(s):

Nishath Hamza ◽

Nashat Al Sukaiti ◽

Khwater Abdelrahman Mohammed Ahmed ◽

Rosa Romano ◽

Uday A. Gokhale ◽

...

Keyword(s):

Autosomal Recessive ◽

Genetic Diagnosis ◽

Skin Barrier ◽

Index Patient ◽

Severe Atopic Dermatitis ◽

Netherton Syndrome ◽

Novel Association ◽

Arab Patient ◽

Peptidase Inhibitor ◽

Congenital Ichthyosiform Erythroderma

Netherton syndrome (NS) is an autosomal recessive primary immunodeficiency which is characterized by substantial skin barrier defects and is often misdiagnosed as severe atopic dermatitis or Hyper IgE syndrome. Although, over 80 pathogenic mutations in the SPINK5 gene have been reported worldwide in association with NS, only one NS-associated mutation has been reported in Arab populations to-date. This case report presents a novel association between the c.1887+1G>A mutation in the SPINK5 gene and NS in an Omani-Arab patient born in 2014. Accurate genetic diagnosis facilitated tailored clinical management of the index patient and enabled the provision of genetic counseling and offering of future reproductive options to the related individuals of the index patient. Keywords: Netherton syndrome, autosomal recessive, Serine Peptidase Inhibitor Kazal-Type 5, Congenital Ichthyosiform Erythroderma, genetics

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Disorders of the Epidermis

10.1093/med/9780190276478.003.0002 ◽

2017 ◽

Author(s):

Virginia P. Sybert

Keyword(s):

Epidermolysis Bullosa ◽

Chondrodysplasia Punctata ◽

Palmoplantar Keratoderma ◽

Epidermolysis Bullosa Simplex ◽

Lipid Storage Disease ◽

Netherton Syndrome ◽

Epidermolysis Bullosa Dystrophica ◽

Pityriasis Rubra Pilaris ◽

Epidermolytic Hyperkeratosis ◽

Congenital Ichthyosiform Erythroderma

Chapter 2 covers Ichthyoses (Bullous Congenital Ichthyosiform Erythroderma, Harlequin Ichthyosis, Ichthyosis Bullosa of Siemens, Ichthyosis Hystrix, Ichthyosis Vulgaris, Lamellar Exfoliation of the Newborn, Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma, Netherton Syndrome, Peeling Skin Syndrome, Restrictive Dermopathy, and X-linked Recessive Ichthyosis), Erythrokeratodermas (Erythrokeratodermia Variabilis ET PROGESSIVA, and Pityriasis Rubra Pilaris), Acrokeratoderma (Acrokeratoelastoidosis, Acrokeratosis Verruciformis (HOPF)), Hereditary Palmoplantar Keratodermas (Hereditary Palmoplantar Keratoderma with Deafness, Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis, Hereditary Palmoplantar Keratoderma Howel-Evans, Hereditary Palmoplantar Keratoderma Olmsted, Hereditary Palmoplantar Keratoderma Punctate, Hereditary Palmoplantar Keratoderma Striata, Hereditary Palmoplantar Keratoderma Unna-Thost, Hereditary Palmoplantar Keratoderma Vohwinkel, Keratolytic Winter Erythema, Mal de Meleda, Papillon-Lefèvre, Scleroatrophic and Keratotic Dermatosis of the Limbs), Porokeratoses (Porokeratosis of Mibelli), Other Disorders of the Epidermis (Absence of Dermatoglyphics, Acanthosis Nigricans, Darier-White Disease, Hereditary Painful Callosities, Keratosis Follicularis Spinulosa Decalvans, Knuckle Pads, Kyrle/Flegel Disease, Ulerythema Ophryogenes), Syndromic Disorders (CHILD Syndrome, Chondrodysplasia Punctata, Ichthyosis with Hypogonadism, KID Syndrome, Neu-Laxova Syndrome, Neutral Lipid Storage Disease with Ichthyosis, Refsum Disease, Richner-Hanhart Syndrome, Sjögren-Larsson Syndrome), Cohesion (Epidermolysis Bullosa, Epidermolysis Bullosa Simplex Dowling-Meara, Epidermolysis Bullosa Simplex Generalized, Epidermolysis Bullosa Simplex Localized, Epidermolysis Bullosa Junctional Generalized, Epidermolysis Bullosa Junctional Generalized Atrophic Benign, Epidermolysis Bullosa Dystrophica Cockayne-Touraine, Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens, Epidermolysis Bullosa Dystrophica Pretibial, Transient Bullous Dermolysis of the Newborn, Hailey-Hailey Disease). 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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