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Congenital disorder that involves production of
abnormal bamboo (brittle) hair (diagnostic marker) and associated with
onychodystrophy, cataracts, mental retardation, skin sensitivity to light,
and ichthyosis.
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Psoriasiform Ichthyosis; Trichothiodystrophy; Ichthyosis
Linearis Circumflexa; Trichorrhexis Invaginata; Còmel-Netherton Syndrome.
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Association between hair shaft bamboo node defects and
ichthyosiform erythroderma was described by Albert Touraine, a French
dermatologist, and Gabriel Solente, a French physician, in 1937. E.W.
Netherton, an American physician, described a young girl with generalized
scaly dermatitis in 1958.
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Frequency is unknown; affects almost only females.
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Most likely an autosomal recessive inherited
inborn error of metabolism; most often occurs in females.
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Microscopically, the hairs have a squashed oval
shape in cross-section and irregular diameter, mostly caused by a reduction
in the content of hair sulfur and cysteine. Studies suggest that the protein
gene involved in xeroderma pigmentosum group D (XPD) protein gene can lead
to trichothiodystrophy.
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Generalized erythroderma and scaling present within the
first week following birth.
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Affected children present with erythroderma
within 1 to 6 weeks of birth. Bamboo hair, atopic diathesis, congenital
ichthyosiform erythroderma. Hypogammaglobulinemia. May be confused with
atopic dermatitis but does not respond to topical corticosteroid treatment.
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Evaluate the severity of
hypogammaglobulinemia. Ensure that no topical steroids are used (risk of
depression of the adrenocortical production of steroids and of
perioperative addisonian-like crisis).
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The high risk of infection as a result of
immunodeficiency must be considered. Pay special attention to the skin when
positioning and securing the intravenous access and monitoring devices.
Temperature regulation management is essential intraoperatively. Fluid and
electrolyte management must be very intensive because of excessive skin loss.
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No medications are described as
harmful. However, it is recommended to avoid thiopentone in the very severe bullous form.
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Collodion Baby: Inherited syndrome apparent at birth and present
throughout life. The newborn is born encased in a collodion membrane that
sheds within 2 weeks, revealing generalized scaling with variable redness of
the skin. The clinical consequences are frequently life-threatening sepsis
and dehydration by protein and electrolyte loss.
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X-Linked Ichthyosis (Steroid Sulfatase Deficiency Syndrome;
Placental Steroid Sulfatase Deficiency Syndrome): Characterized by onset at birth. It is defined
by striking scaling more prominent on the abdomen than on the back, with an
extension of scaling down the front of the leg onto the dorsum of the foot.
Histologically the epidermis is atrophic in ichthyosis vulgaris and hypertrophic ...