Síndrome de Jackson-Lawler. A propósito de un caso / Jackson-Lawler síndrome. A case report

Se presenta paciente masculino de 27 años de edad, de raza mestiza, con antecedentes de queratodermia plantar, que acude a consulta especializada de dermatología en el hospital clínico quirúrgico docente Celia Sánchez Manduley por exacerbación de las lesiones, acompañadas de dolor intenso al caminar; evidenciándose al examen físico la presencia de lesiones quísticas diseminadas, hipertrofia ungueal y alopecia. Se concluye caso como síndrome de Jackson-Lawler, resaltando su infrecuencia en el medio, la afectación de calidad de vida e impacto psicológico generada al paciente y la importancia del asesoramiento genético al mismo, con el fin de prevenir futuras generaciones afectadas(AU)

We present a 27-year-old male patient of mixed race, with a history of plantar keratoderma, who attended a specialized in the Celia Sánchez Manduley clinical teaching hospital due to exacerbation of the lesions, accompanied by severe pain when walking; the physical examination revealed the presence of disseminatedcystic lesions, nail hypertrophy and alopecia. The case is concluded as a Jackson-Lawler syndrome, highlighting its infrequence in the environment, the impact on the quality of life and the psychological impact generated on the patient and the importance of genetic counseling to them, in order to prevent future generations affected(EU)

[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)]. / Hallazgos clínicos y moleculares de la paquioniquia congénita tipo 2 (PC-2).

Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d female patient with the missense mutation in KRT17 gene (c.280C> T, p.Arg94Cys) and discuss the several clinical features found with this mutation in the literature.

A case with pachyonychia congenita and B-cell lymphoma.

Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome) and B-cell lymphoma is described. No similar disorders or parental consanguinity were found in her family. Typical features of PC developed since her early childhood and the diagnosis of B-cell lymphoma was established seven years ago, without a clear causal relation between these entities. Despite inherent limitations of a single case, this report may contribute to PC understanding.

Do you know this syndrome? Pachyonychia congenita.

Pachyonychia Congenita is a rare genodermatosis of keratinization, first described in 1906 by Jadassohn and Lewandowsky. Besides not being well known, phenotypic variability and oligosymptomatic subtypes make the diagnosis difficult. We report a family with three generations affected, until recently not diagnosed. The active search for familial cases in patients with suspicious manifestations and identification of peculiar characteristics of its subtypes, as multiplex steatocystoma, provide early clinical diagnosis. In addition, nurture the family counseling and informations about prognosis.

Oral manifestations of pachyonychia congenita.

Pachyonychia congenita is a rare genetic disorder characterized mainly by hypertrophy of the nails and hyperkeratosis of the skin and mucosae. Fifty percent of all patients have oral leukokeratosis, which is often painful. The case reported here is of a 41-year-old patient who had white lesions in the form of irregular plaques; these affected multiple regions of the oral mucosa and were sensitive to touch. Histological examination revealed acanthosis, parakeratosis and ballooning of the epithelial cells, consistent with oral leukokeratosis. After therapy including topical steroids and prosthetic rehabilitation, the symptoms resolved.