Síndrome de Unna-Thost / Unna-Thost syndrome

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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.

Tylosis (hyperkeratosis palmaris et plantaris) is characterised by focal thickening of the skin of the hands and feet and is associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. This risk has been calculated to be 95% at the age of 65 in one large family, however the frequency of the disorder in the general population is not known and is likely to be less than one in 1,000,000. Oesophageal lesions appear as small (2-5 mm), white, polyploid lesions dotted throughout the oesophagus and oral leukokeratosis has also been described. Although symptoms of oesophageal cancer can include dysphagia, odynophagia, anorexia and weight loss, there may be an absence of symptoms in early disease, highlighting the importance of endoscopic surveillance in these patients. Oesophageal cancer associated with tylosis usually presents in middle to late life (from mid-fifties onwards) and shows no earlier development than the sporadic form of the disease. Tylosis with oesophageal cancer is inherited as an autosomal dominant trait with complete penetrance of the cutaneous features, usually by 7 to 8 years of age but can present as late as puberty. Mutations in RHBDF2 located on 17q25.1 have recently been found to be causative. A diagnosis of tylosis with oesophageal cancer is made on the basis of a positive family history, characteristic clinical features, including cutaneous and oesophageal lesions, and genetic analysis for mutations in RHBDF2. The key management goal is surveillance for early detection and treatment of oesophageal dysplasia. Surveillance includes annual gastroscopy with biopsy of any suspicious lesion together with quadratic biopsies from the upper, middle and lower oesophagus. This is coupled with dietary and lifestyle modification advice and symptom education. Symptomatic management of the palmoplantar keratoderma includes regular application of emollients, specialist footwear and early treatment of fissures and super-added infection, particularly tinea pedis. More specific treatment for the thick skin is available in the form of oral retinoids, which are very effective but commonly produce side effects, including nasal excoriation and bleeding, hypercholesterolaemia, and abnormal liver function tests. Genetic counselling can be offered to patients and family members once a family history has been established. The prognosis of tylosis with oesophageal cancer is difficult to determine due to the limited number of affected individuals. In the last 40 years of surveillance, five out of six cases of squamous oesophageal cancer in the Liverpool family were detected endoscopically and were surgically removed. Four of five patients had stage 1 disease at presentation and remain alive and well more than 8 years later. This suggests that the presence of a screening program improves prognosis for these patients.

Alertas cutáneas en malignidades sistémicas (parte I) / Cutaneous alerts in systemic malignancy: Part 1

El objetivo de esta revisión es alertar al dermatólogo y a los clínicos en general de los signos y síntomas cutáneos que pueden contribuir al diagnóstico precoz de una neoplasia subyacente. Puesto que la piel es uno de los órganos más accesibles, nunca debe ser ignorada en las enfermedades sistémicas. Posee la ventaja de que su exploración no requiere técnicas agresivas y nos revela datos importantes de la situación del paciente. Habitualmente se abordan los síndromes paraneoplásicos clásicos, pero hay una gran variedad de procesos cutáneos no estrictamente paraneoplásicos, que en un determinado contexto sugieren la presencia de una malignidad o que tienen más riesgo de desarrollarla a lo largo de la vida. Se ha optado por enumerar las distintas dermatosis agrupándolas por su morfología clínica, siguiendo un orden aleatorio. Varios de los procesos comparten signos y síntomas múltiples, por lo que se ha recurrido al más notorio para incluirlo en un determinado grupo (AU)

The aim of this review is to familiarize dermatologists and clinicians in general with cutaneous signs and symptoms that can help lead to an early diagnosis of an underlying malignancy. Because the skin is one of the most accessible organs, it should never be overlooked in systemic disease. Examination of the skin has the advantage of revealing important information about the patient’s condition without requiring the use of invasive techniques. In the literature, most discussions of cutaneous manifestations of internal malignancy refer to classic paraneoplastic syndromes, but a wide variety of skin conditions, while not strictly paraneoplastic, can, in certain contexts, indicate the presence of malignancy or an increased risk of developing cancer later in life. In this review, various skin conditions that can signal malignancy or increased cancer risk are presented in randomly ordered groups based on clinical morphology. Conditions with multiple signs and symptoms have been classified on the basis of their most characteristic feature (AU)

Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family.

Palmoplantar tylosis is a focal nonepidermolytic palmoplantar hyperkeratosis, which is inherited as an autosomal dominant condition. Two types have been described: an early onset type B tylosis, which occurs in the first year of life and is usually benign, and type A tylosis, which occurs between the ages of 5 and 15 years. Type A tylosis has been associated with a high incidence of oesophageal carcinoma in three families in England, Germany and the USA. This study describes an additional family from Spain with tylosis A, without any known relation to those described before.

Queratodermia palmoplantar difusa hereditaria / Diffuse hereditary palmoplantar keratoderma

Se presenta un caso de queratodermia palmoplantar difusa de Unna-Thost/Vörner en un niño con antecedentes familiares de esta enfermedad. Este proceso no es muy frecuente, si bien su clínica característica y su herencia autosómica dominante hacen que el diagnóstico de presunción sea fácil. El papel del pediatra en estos casos es, una vez confirmado el diagnóstico, descartar que exista sordera asociada mediante un estudio de potenciales evocados, y lograr un desarrollo de la marcha y de la función manual normales. El pediatra debe coordinar un tratamiento multidisciplinario encaminado a la rehabilitación funcional

The authors present a case of Unna-Thost/Vörner diffuse palmoplantar keratoderma ina boy with family history of the disease. Although this condition is uncommon, the characteristic clinical findings and its pattern of autosomal dominant in-heritance make it easy to reach a presumptive diagnosis. The role of the pediatrician, once the diagnosis has been confirmed, is to rule out the presence of an associated hearing loss by means of a study of norma gait and hand function. The pediatrician should coordinate a multidisciplinary treatment to achieve functional rehabilitation

Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings.

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare, diffuse, honeycombed, palmar and plantar keratosis usually accompanied by pseudoainhum near the distal interphalangeal creases. The syndrome is reported in three out of five siblings (two brothers and one sister), who developed this problem in early childhood.

Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation.

Tyrosinaemia type II (oculocutaneous tyrosinaemia or Richner-Hanhart syndrome) is a rare and potentially treatable genetic disorder. Corneal opacities or ulcers, circumscribed palmoplantar keratoderma and subnormal intelligence form the classical triad of this syndrome. A case with additional features of self-harm and diffuse plantar keratoderma is discussed. Emphasis is laid on the importance of early diagnosis and intervention in the form of dietary regulation to prevent the neurological signs and treat the oculocutaneous symptoms.

Palmoplantar keratodermas.

The palmoplantar skin is a highly specialized tissue which is able to resist mechanical trauma and other physical stress. In recent years the more descriptive classification of keratodermas has switched to an exact molecular genetic view where gene functions are considered. Palmoplantar keratodermas can be separated in the following functional subgroups: disturbed gene fuctions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein1), cell-to-cell communication (connexins), and transmembrane signal transduction (cathepsin C). This review intends to emphasize the typical clinical aspects and symptom complexes associated with palmoplantar keratodermas which enable the astute dermatologist to make a clinical diagnosis. In addition the molecular genetic knowledge on the topic is given which is necessary to confirm the clinical diagnosis.

Hiperqueratosis digitada diminuta múltiple / Multiple minute digitate hyperkeratoses

Una mujer de 50 años presentaba cientos de pequeñas lesiones papulosas hiperqueratósicas distribuidas por el tronco y la zona proximal de extremidades, sin afectación palmoplantar ni de los anejos cutáneos. Al microscopio las lesiones mostraban hiperqueratosis ortoqueratósica. La hiperqueratosis digitada diminuta múltiple tiene varias formas de presentación: familiar (con inicio en la segunda y tercera década de la vida), esporádica y postinflamatoria. El estudio histopatólogico demuestra que las formas familiares y esporádicas tienen características semejantes, diferentes de las formas postinflamatorias. (AU)

Thost-Unna: presentación de un caso y revisión del tema / Thost-Unna: case presentation and review

Se presenta el caso de una paciente de 26 años de edad que presenta una queratodermia palmoplantar. Aunque las imágenes histopatológicas son comunes a otras queratodermias, las características clínicas y genéticas permiten llegar al diagnóstico de enfermedad de Thost-Unna, considerada por el International Working Group una histodisplasia. La frecuencia de aparición es indeterminada en nuestro país (AU)

[Vörner keratosis palmoplantaris diffusa. Clinical, formal genetic and molecular biology studies of 22 families]. / Keratosis palmoplantaris diffusa Vörner. Klinische, formalgenetische und molekularbiologische Untersuchungen bei 22 Familien.

In 1901, Vörner described a diffuse keratoderma of palms and soles with autosomal dominant inheritance. Histopathologically, this disease has the typical features of epidermolytic hyperkeratosis. Clinical examination does not allow differentiation between keratoderma of the Vörner type and the keratoderma described by Thost in 1880 and Unna in 1883. Reexamination of the family originally seen by Thost revealed histopathological signs of epidermolytic hyperkeratosis, confirming that keratoderma of the Vörner type is present in this family. The clinical features and variability of this palmoplantar keratoderma were demonstrated on the basis of an examination of 22 families (46 patients). In addition to diffuse hyperkeratosis of palms and soles with a sharp demarcation and erythematous margin, some less well-known features, such as knuckle pad-like keratoses on the finger joints and clubbing of the nails were observed. A genetic analysis of the pedigrees suggests that new mutations causing this disorder rarely occur. Point mutations in the keratin 9 gene, which has been mapped to chromosome 17q21, can be a cause of epidermolytic keratoderma of palms and soles. Five different keratin 9 gene mutations were identified. All these mutations are localized in the highly conserved coil 1A region of the rod domain, which is thought to be relevant for dimer formation in intermediate filaments.