Lamellar Ichthyosis Clinical Presentation

Updated: Jun 28, 2017
  • Author: Chris G Adigun, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Lamellar ichthyosis presents at birth, typically with the newborn encased in a collodion membrane. The skin may be bright red, but progresses to develop large, platelike scales. The scales are large on the lower extremities, with the scales separated by superficial fissures. Although present at birth, during childhood and into adulthood, erythroderma is typically absent. Involvement of the acral surfaces can vary from mild hyperlinearity to severe hyperkeratosis of the palms and soles. The scalp may develop thick, adherent scale that may lead to scarring alopecia. [10] Nail dystrophy and thermoregulatory problems leading to possible seizures are also characteristics seen in lamellar ichthyosis. [11] Also notable are the consequences to the eyes, as ectropion formation is common.

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Physical Examination

Newborn period

The newborn presents encased in a tough, filmlike membrane that fissures when stretched. This collodion membrane is shed by 10-14 days, revealing generalized erythema and scaling.

Childhood and adulthood

Skin

The disease is characterized by generalized scales, which range from fine and white to thick, dark, and platelike. The scales are arranged in a mosaic pattern resembling fish skin. The lesions involve the entire body and are increased in flexural surfaces such as the axilla, groin, antecubital fossa, and neck. The individual scales tend to be larger over the legs and, in some areas, are centrally attached and raised at the edges. [15] See the image below.

Keratoderma of the palms in a patient with lamella Keratoderma of the palms in a patient with lamellar ichthyosis. Courtesy of Dirk Elston, MD.

Nail abnormalities

These include secondary dystrophy with nail fold inflammation, subungual hyperkeratosis, and longitudinal or transverse stippling. The nails may grow 2-3 times the normal rate. See the image below.

Nail dystrophy and inflammation of the nail folds. Nail dystrophy and inflammation of the nail folds. Courtesy of M. Bryan, MD.

Scalp

Scarring alopecia can result from the overall tightness of skin and the thick stratum corneum entrapping hairs. The hair may be thin and fine but, similar to the nails, can grow at 2-3 times the normal rate.

Eyes

Patients may develop thick periocular scale that can lead to scarring ectropion formation. Ectropion formation impedes the lids from closing fully, causing chronic dry eyes that require treatment with artificial tears and other ophthalmic lubricants to prevent keratitis.

Other findings

The lips and mucous membranes tend to be spared. Other associated features are ectropion, eclabium, bilateral conjunctivitis, small and deformed ears, and inflexible digits due to taut skin. See the image below.

Inflexible fingers due to taut skin in a young pat Inflexible fingers due to taut skin in a young patient with lamellar ichthyosis. Courtesy of Dirk Elston, MD.
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Causes

Lamellar ichthyosis is an autosomal recessive disorder in almost all cases. Genetic linkage studies have been performed on families with classic lamellar ichthyosis and show markers on band 14q11 in the region of the TGM1 gene locus. An autosomal dominant form of lamellar ichthyosis has been described. [12, 13] Paller et al concluded that the major orphan forms of ichthyosis share an interleukin 17–dominant immune fingerprint. [14]

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Complications

Patients with lamellar ichthyosis have a normal life expectancy. Scaling of the skin may lead to obstruction of sweat glands, resulting in thermoregulatory complications. Bacterial colonization in areas of excessive scaling may lead to chronic ear infection. Nail dystrophy, ectropion formation, and scarring alopecia are other complications of lamellar ichthyosis. [11]

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