The Ichthyosis Encyclopedia: Tests, Causes and Treatments

By JP Smithson

Ichthyosis is a common term for a family of rare genetic skin illnesses indicated by dry, thickened, scaling or flaking skin. This Encyclopedia contains tests, causes and treatment options for 28 variants of the disease including Harlequin Baby and Ichthyosis Vulgaris.

• Language: English
• Publisher: Andale LLC
• Release date: Nov 11, 2011
• ISBN: 9781465839930

Book preview

The Ichthyosis Encycopedia: Tests, Causes, and Treatments

JP Smithson MA,

M Awad MD (Ed.)

Smashwords Edition

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Copyright 2011 JP Smithson MA, M Awad MD

Smashwords Edition, License Notes

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Contents

Introduction

Disorders

Carvajal Syndrome

Chanarin-Dorfman syndrome (neutral lipid storage disease)

Conradi-Hunermann syndrome (X-linked dominant chondrodysplasia punctata)

Darier’s disease

Epidermal nevi (ichthyosis hystrix, linear epidermal nevus)

Epidermolytic hyperkeratosis (EHK)

Erythrokeratodermia variabilis (EKV)

Giroux-Barbeau syndrome

Hailey–Hailey disease

Harlequin-type ichthyosis

Ichthyosis acquisita

Ichthyosis hystrix

Ichthyosis hystrix, Curth-Macklin type

Ichthyosis hystrix, Lambert type

Hystrix-like ichthyosis with deafness syndrome

Ichthyosis hystrix, Baefvertstedt type

Ichthyosis vulgaris

IFAP Syndrome

Keratosis follicularis spinulosa decalvans

Keratitis-ichthyosis-deafness syndrome (KID syndrome (keratitis, ichthyosis, deafness))

Lamellar ichthyosis

Collodion baby

Multiple sulfatase deficiency

Netherton syndrome (ichthyosis linearis circumflexa)

Pachyonychia congenita,

Palmoplantar keratodermas (PPK)

Peeling skin syndrome

Pityriasis rubra pilaris

Refsum disease

Senter syndrome

Sjögren–Larsson syndrome

IBIDS syndrome (Tay syndrome trichothiodystrophy)

X-linked ichthyosis

References

Introduction

Ichthyosis is a common term for a family of rare genetic skin illnesses indicated by dry, thickened, scaling or flaking skin. In some cases, the skin may be cracked, like fish scales.The disease gets its name from the Greek ichthys, meaning fish. The severity of the disease can vary from the relatively mild symptoms of the very common ichthyosis vulgaris (often mistaken for dry skin) to harlequin type ichthyosis, which is a life-threatening condition. Over 95 percent of ichthyosis cases are ichthyosis vulgaris cases. It is also known as Disorders of Cornification. At least 28 diseases fall under the realm of ichthyosis. They are classified by their appearance and genetic cause.

The disorders differ from one another with the extent of scaling, where the scaling appears on the body and how intense the reddening of the skin is. There may be genetic components to some disorders as well as abnormalities.

Symptoms

Ichthyosis can be identified by scaly and dry skin which often appears over large parts of the body. Nearly all variants of the disorder occur in all population types and don’t discriminate by race or gender.

The skin might also itch (pruritis) and be red ( erythroderma ). Babies born with some types