Oral tylosis: a re-appraisal.

The oral lesions in patients with tylosis (palmoplantar keratoderma) associated with oesophageal cancer, are evaluated, based on their clinical presentation, histological features and long term follow-up. The terminology of these lesions is discussed, together with a proposed reclassification of some forms of palmoplantar keratoderma.

Queratodermia palmoplantar punteada monosintomática de Buschke-Fisher-Brauer / Monosymptomatic punctate keratoderma of Bushke-Fisher-Brauer

Presentamos un caso de queratodermia punteada palmoplantar hereditaria con transmisión autosómica dominante no asociada a otras malformaciones. Siete miembros de la familia estaban afectados. Proponemos un esquema de clasificación de este tipo de queratodermias, de acuerdo con su modo de herencia, la forma clínica en aisladas y asociadas, y la histopatología. La dermatosis de la paciente puede corresponder a una forma monosintomática de Buschke-Fisher-Brauer

Queratodermia palmoplantar punteada monosintomática de Buschke-Fisher-Brauer / Monosymptomatic punctate keratoderma of Bushke-Fisher-Brauer

Presentamos un caso de queratodermia punteada palmoplantar hereditaria con transmisión autosómica dominante no asociada a otras malformaciones. Siete miembros de la familia estaban afectados. Proponemos un esquema de clasificación de este tipo de queratodermias, de acuerdo con su modo de herencia, la forma clínica en aisladas y asociadas, y la histopatología. La dermatosis de la paciente puede corresponder a una forma monosintomática de Buschke-Fisher-Brauer

Spiny keratoderma of the palms and soles.

Six cases of a dermatosis characterized by "music box spine" keratotic papules limited to the palms and soles have been reported. The names that have been used for this type of dermatosis most commonly incorporate the term porokeratosis; for example, "porokeratosis palmaris et plantaris," or "punctuate porokeratotic keratoderma." We suggest the name "spiny keratoderma of the palms and soles," because the clinical, histologic, and electron microscopic features of this entity are distinct from porokeratosis. In addition, unlike porokeratosis, this entity has not shown malignant potential. We report a case of "spiny keratoderma of the palms and soles" and show that topical 5-fluorouracil is an effective treatment.

Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance.