Autosomal dominant, slowly progressive disorder of
keratinization. Lesions usually coalesce and result in crusted papillomatous
Keratosis Follicularis; Dyskeratosis Follicularis.
Four new cases per million per 10 years. Gene map locus
Results from an abnormal desmosome-keratin
filament complex that leads to disruption of cell adhesion.
Diagnosis is made by family history and clinical aspect.
Histological studies of the skin are diagnostic and characterized by
hyperkeratosis, dyskeratotic epidermal cells, suprabasal separation of the
spinal layer with formation of clefts and lacunae containing acantholytic
cells, dermal villi extending in the epidermis, and mild nonspecific
perivascular dermal infiltration.
Age of onset is usually between 6 and 20 years,
with peak onset around puberty. Keratotic papules appear predominantly on
the upper trunk and may involve the face, scalp, neck, hands (palms), feet
(soles), and limb flexures (axillae, groins). The papillomatous masses may
become malodorous. Nail dystrophy manifests as subungual hyperkeratosis,
fragility, longitudinal ridging and splitting, and longitudinal red and
white lines. Mucous membranes, such as lips, buccal mucosa, hard palate,
alveolar ridges, uvula, pharynx, larynx, and vulva, are rarely involved.
However, if involved, papules, fissures, crusts, and ulcers may result.
Secondary cutaneous infection (herpes virus, bacterial) is a frequent
complication. The disease is exacerbated by sunlight or sunburn.
Occasionally, patients suffer from a seizure disorder and mild mental
Inquire about dermatologic
treatment. Adverse effects of oral retinoid derivatives include increased
intracranial pressure, pseudotumor cerebri, hypoplastic anemia, leukopenia,
optic neuropathy, hypercalcemia, bone demineralization, increased alkaline
phosphatase level, hepatomegaly, splenomegaly, dermatotoxicity,
carcinogenicity, photosensitization, and teratogenicity. A newer generation
of more selective topical retinoids seems almost devoid of toxic side
effects. Topical steroids are of little use in Darier disease. In the
presence of oral retinoid treatment, obtain a complete blood count,
hemoglobin level, liver function tests, and calcium level, and evaluate for
the presence of increased intracranial pressure. If necessary, obtain a
Involvement of the mucous membranes is
extremely rare and does not compromise airway management. In the presence of
retinoic acid toxicity, correction of anemia and hypercalcemia may be
necessary. In the rare cases of increased intracranial pressure, precautions
to prevent further elevation should be taken. In cases with an associated
seizure disorder, patients on anticonvulsant treatment should receive their
In the presence of a seizure
disorder, avoid potentially epileptogenic drugs such as methohexital,
ketamine, enflurane, atracurium, cis-atracurium, and meperidine (the last three
only if given in large quantities because of their metabolites laudanosine
and normeperidine, respectively).
Burge SM, Wilkinson JD: Darier-White disease: A review of the clinical
features in 163 patients. J Am Acad Dermatol
Weinstein GD: Safety, efficacy and duration of therapeutic effect of
tazarotene used in the treatment of plaque ...