Subject(s)
Eccrine Glands/pathology , Keratoderma, Palmoplantar/diagnosis , Skin Diseases, Papulosquamous/pathology , Female , HIV Infections/diagnosis , Humans , Keratoderma, Palmoplantar/drug therapy , Keratoderma, Palmoplantar/psychology , Male , Middle Aged , Quality of Life , Skin Cream/administration & dosage , Skin Cream/therapeutic use , Treatment Outcome , Urea/administration & dosage , Urea/therapeutic use , WaterABSTRACT
Mal de Meleda is an hereditary palmoplantar keratoderma named for the Mljet Island in Croatia. The lives of those affected by this disease represent a complex situation that encompasses members of a vulnerable group. They require enlightenment and should be approached with awareness, taking into account their overall psychophysical status and the environment of each patient. Those afflicted with Mal de Meleda not only have to deal with a difficult life due to their affliction, but they also must cope with the hardships of socialization while trying to realize a normal life within their island community. This is compounded by the frequent interviews and examinations of researchers interested in the various aspects of their illness. The subject of this contribution is not about the nature of this disease, rather about the traces it has left on the (sub)consciousness of the population. It is also concerned with exploring ways of how to access patients and understanding the depth of their vulnerability. We present some thoughts tied to the interpersonal experiences of researchers and patients afflicted with Mal de Meleda.
Subject(s)
Keratoderma, Palmoplantar , Stereotyping , Awareness , Croatia , Ethics , History, 18th Century , History, 19th Century , History, 20th Century , History, Medieval , Humans , Keratoderma, Palmoplantar/genetics , Keratoderma, Palmoplantar/history , Keratoderma, Palmoplantar/pathology , Keratoderma, Palmoplantar/psychology , Leprosy , Psychological Distance , Quality of Life , Social Isolation , Social Networking , Social Perception , Vulnerable PopulationsABSTRACT
Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation. This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. Typically, patients regularly trim/pare/file/grind their calluses and file/grind/clip their nails. Topical agents, including keratolytics (eg, salicylic acid, urea) and moisturizers, can provide limited benefit by softening the skin. For some patients, retinoids help to thin calluses but may lead to increased pain. This finding has stimulated a drive for alternative treatment options, from gene therapy to alternative nongenetic methods that focus on novel findings regarding the pathogenesis of pachyonychia congenita and the function of the underlying genes.
Subject(s)
Keratoderma, Palmoplantar/diagnosis , Keratoderma, Palmoplantar/epidemiology , Keratoderma, Palmoplantar/therapy , Pachyonychia Congenita/epidemiology , Pachyonychia Congenita/therapy , Comorbidity , Disease Management , Female , Humans , Keratoderma, Palmoplantar/psychology , Male , Pachyonychia Congenita/diagnosis , Pain Management , Prognosis , Quality of Life , Risk Assessment , Severity of Illness Index , Sick RoleABSTRACT
Se presenta el caso de un paciente de color de piel negra, sexo masculino y de 37 años de edad que acudió a consulta del Servicio de Dermatología de su área de salud por presentar lesiones cutáneas en las palmas de las manos y en las plantas de los pies. Refirió que las lesiones se agudizaron con el tiempo. Estas se convirtieron en lesiones hiperqueratósicas que afectaban nudillos y rodillas. Presentaba una deformidad de las uñas de las manos, de aspecto de pico de loro, acompañada de dolor y moderada hiperhidrosis. Se llegó al diagnóstico de queratodermia ortoqueratósica difusa de Unna Thost. Esta queratodermia se presenta en una de cada 40 000 personas y es de origen hereditario. Por lo infrecuente de su presentación, la afectación biológica, repercusión psicológica y limitación laboral que presupone, así como el seguimiento médico que lleva, se decidió presentar este caso(AU)
The case of a 37 years old, black skinned, male patient who attended Dermatology Consultation in his health area is presented. The patient had skin lesions on the palms of his hands and the soles of his feet. He stated that these injuries had worsened with time. Eventually they became hyperkeratotic lesions affecting the knuckles and the knees. The patient also presented a deformity of his fingernails resembling a parrot's beak that produced pain and moderate hyperhidrosis. A diagnosis of diffuse orthokeratotic Thost-Unna keratoderma was completed. This keratoderma occurs in one out of every 40 000 people and is hereditary. Because it is such an uncommon presentation with biological implications, psychological impact and work impediments, that requires a specific medical monitoring, it was decided to present this case to be published(AU)
