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Complications of Ichthyosis in Children
Complications of Ichthyosis in Children
DERMATOLOGIC THERAPY
ISSN 1396-0296
INVITED ARTICLE
Complications of ichthyosis
beyond the skin
Lucia Z. Diaz*, John C. Browning, Aimee C. Smidt,
William B. Rizzo & Moise L. Levy
*Department of Dermatology, University of Texas Health Science
Center-Houston, Houston, Department of Pediatrics and Division of
Dermatology, University of Texas Health Science Center at San Antonio, San
Antonio, Pediatric Dermatology, Dell Childrens Medical Center, Austin,
Texas, Departments of Dermatology and Pediatrics, University of New
Mexico School of Medicine, Albuquerque, New Mexico and Department of
Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska
ABSTRACT: Although ichthyoses are noted for their skin features, like many dermatologic conditions,
patients are often impacted in ways beyond the skin. Much has been described in recent years regarding
quality of life and skin disorders. This is certainly the case for ichthyosis. For neonates or others with
diffuse involvement of their skin, nutritional needs are often exceeding normal requirements. These can
often result in growth abnormalities. Lastly, with specific subtypes of ichthyosis, compromise of tissues
around the eyes and ears can be of concern to some patients. Certainly, some forms of ichthyosis are
routinely complicated by such findings. It is important for practitioners caring for individuals with
ichthyosis to have these issues in mind.
KEYWORDS: ichthyosis, quality of life, growth, eye and ear
Introduction
This section will deal with issues of great importance to patients and families dealing with ichthyosis. First of all, the impact of this condition on the
overall quality of life will be addressed by Dr Smidt.
This is a complex set of concerns that vary in
intensity for individuals dealing with ichthyosis.
Nutrition and growth are of great importance for
all patients with diffuse skin disorders. This is no
exception for ichthyosis and has been reviewed by
Drs Diaz, Browning, and Levy. Lastly, various cliniAddress correspondence and reprint requests to: Moise L.
Levy, MD, Pediatric Dermatology, Dell Childrens Medical
Center, 4900 Mueller Blvd., Austin, Texas 78723; or email:
mlevy@sfcaustin.com.
cal types of ichthyosis are complicated by difficulties involving the eyes and ears; several such
problems will be reviewed by Dr Rizzo.
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Diaz et al.
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Harlequin ichthyosis
Lamellar ichthyosis
X-linked (steroid sulfatase
deficiency)
Autosomal recessive congenital
ichthyosis (congenital
ichthyosiform erythroderma)
Keratitis-ichthyosis-deafness
syndrome
Steroid sulfatase contiguous gene
deletion
SjgrenLarsson syndrome
CEDNIK syndrome
MEDNIK syndrome
IFAP syndrome
CHIME syndrome
Dolichol kinase deficiency
Steroid 5a-reductase type-3
deficiency
Chondrodysplasia punctata,
X-linked dominant
(Conradi-Hnermann-Happle
syndrome)
Chondrodysplasia punctata,
X-linked recessive
ELOVL4 deficiency
Multiple sulfatase deficiency
Neutral lipid storage disease with
ichthyosis
Refsum disease
Trichothio-dystrophy (Tay
syndrome)
Rhizomelic chondrodysplasia
punctata
Cataracts
Keratitis
RP
Macular atrophy,
degeneration
Optic nerve
hypoplasia
Corneal
defects
Coloboma
Nystagmus
Photophobia
Feature incidence: , typically present; , frequent (>50%); , often present (1050%); , occasionally present.
CEDNIK, cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma; CHIME, ocular colobomas, heart defect, ichthyosiform dermatitis, mental retardation and ear
anomalies; IFAP, ichthyosis follicularis, alopecia, and photophobia; MEDNIK, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma; RP, retinitis
pigmentosa.
Ectropion
Type of Ichthyosis
Diaz et al.
43
Diaz et al.
44
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