Poroma. Estudio retrospectivo de 80 pacientes en un hospital terciario / Poroma: A Retrospective Series of 80 Patients at a Tertiary Care Hospital

Introducción El poroma es un tumor anexial benigno exclusivo de la piel que tiene una predilección por la piel palmoplantar.Objetivo Analizar las características clínicas del poroma en nuestra población.Material y métodosEstudio retrospectivo de los pacientes con poroma diagnosticados entre 2002 y 2021. Se revisaron las historias clínicas para obtener los siguientes datos: edad, sexo, localización, número de lesiones, diámetro, tiempo de evolución, características clínicas de los tumores, diagnóstico clínico de sospecha, estado de los márgenes de resección, desarrollo de recidiva y tiempo de seguimiento. Las variables categóricas se compararon mediante la prueba exacta de Fisher. Las variables continuas se compararon mediante la prueba t de Student cuando se confirmó la normalidad de la distribución de datos. De lo contrario, se realizó la prueba U de Mann-Whitney. ResultadosSe incluyeron 80 pacientes con poroma (31 mujeres y 49 varones, con una edad mediana de 65,5 años y rango intercuartílico [RIC] 29 años). La mediana del tiempo medio de evolución fue de 12 meses, RIC 21 meses y la mediana del diámetro 8mm, RIC 7. Ningún paciente presentó lesiones múltiples. Las lesiones se localizaron en la cabeza y el cuello en 13 casos, en el tronco en 13, en las extremidades superiores en 11 y en las extremidades inferiores en 43. Veintitrés lesiones (28,8%) se localizaron en piel acral (palmas 5, plantas 18). La localización en el cuero cabelludo fue más frecuente en el sexo femenino (p=0,041). Las lesiones acrales fueron con mayor frecuencia eritematosas (p=0,014). Cinco pacientes presentaron recidiva local. Conclusiones Aunque los poromas son especialmente frecuentes en la piel acral, sobre todo de los pies, en la mayoría de pacientes se localizan en otras regiones anatómicas (71,3%). El aspecto clínico clásico de lesión exofítica eritematosa se observa con una mayor frecuencia en las lesiones acrales. (AU)

Background Poroma is a benign, exclusively cutaneous, adnexal tumor with a predilection for palmoplantar skin. Objective To analyze the clinical characteristics of poroma in our population.Material and methodsRetrospective study of patients diagnosed with poroma between 2002 and 2021. We conducted a chart review to record age; sex; number, location, and diameter of lesions; time since onset; clinical characteristics; suspected clinical diagnosis; resection margin status; recurrences; and follow-up duration. Categorical variables were compared using the Fisher exact test. Continuous variables were compared using the t test or the Mann-Whitney U test depending on whether they were normally or nonnormally distributed. Results We studied 80 patients (31 women and 49 men) with a median (interquartile range [IQR]) age of 65.5 (29) years. Median time since onset of poroma was 12 (21) months. Median lesion diameter was 8(7)mm, and none of the patients had multiple lesions. The lesions were located on the head and neck in 13 cases, the trunk in 13, the upper extremities in 11, and the lower extremities in 43. Twenty-three lesions (28.8%) were located at acral sites (5 on the palms and 18 on the soles). Women were more likely to have scalp lesions (P=.041). Acral lesions were more likely to be erythematous (P=.014). Five patients experienced local recurrence. Conclusions Although poromas are particularly common in acral locations (especially the feet), most of the lesions in our series (71.3%) were located elsewhere. Acral lesions were more likely to show the classic clinical features of erythema and exophytic growth. (AU)

[Translated article] Poroma: A Retrospective Series of 80 Patients at a Tertiary Care Hospital / Poroma. Estudio retrospectivo de 80 pacientes en un hospital terciario

Background Poroma is a benign, exclusively cutaneous, adnexal tumor with a predilection for palmoplantar skin. Objective To analyze the clinical characteristics of poroma in our population.Material and methods Retrospective study of patients diagnosed with poroma between 2002 and 2021. We conducted a chart review to record age; sex; number, location, and diameter of lesions; time since onset; clinical characteristics; suspected clinical diagnosis; resection margin status; recurrences; and follow-up duration. Categorical variables were compared using the Fisher exact test. Continuous variables were compared using the t test or the Mann–Whitney U test depending on whether they were normally or nonnormally distributed. Results We studied 80 patients (31 women and 49 men) with a median (interquartile range [IQR]) age of 65.5 (29) years. Median time since onset of poroma was 12 (21) months. Median lesion diameter was 8 (7)mm, and none of the patients had multiple lesions. The lesions were located on the head and neck in 13 cases, the trunk in 13, the upper extremities in 11, and the lower extremities in 43. Twenty-three lesions (28.8%) were located at acral sites (5 on the palms and 18 on the soles). Women were more likely to have scalp lesions (P=.041). Acral lesions were more likely to be erythematous (P=.014). Five patients experienced local recurrence. Conclusions Although poromas are particularly common in acral locations (especially the feet), most of the lesions in our series (71.3%) were located elsewhere. Acral lesions were more likely to show the classic clinical features of erythema and exophytic growth. (AU)

Introducción El poroma es un tumor anexial benigno exclusivo de la piel que tiene predilección por la piel palmoplantar. Objetivo Analizar las características clínicas del poroma en nuestra población. Material y métodos Estudio retrospectivo de los pacientes con poroma diagnosticados entre 2002 y 2021. Se revisaron las historias clínicas para obtener los siguientes datos: edad, sexo, localización, número de lesiones, diámetro, tiempo de evolución, características clínicas de los tumores, diagnóstico clínico de sospecha, estado de los márgenes de resección, desarrollo de recidiva y tiempo de seguimiento. Las variables categóricas se compararon mediante la prueba exacta de Fisher. Las variables continuas se compararon mediante la prueba t de Student cuando se confirmó la normalidad de la distribución de datos. De lo contrario, se realizó la prueba U de Mann-Whitney. Resultados Se incluyeron 80 pacientes con poroma (31 mujeres y 49 varones, con una edad mediana de 65,5años y rango intercuartílico [RIC] de 29 años). La mediana del tiempo medio de evolución fue de 12meses, RIC 21 meses, y la mediana del diámetro 8mm, RIC 7. Ningún paciente presentó lesiones múltiples. Las lesiones se localizaron en la cabeza y en el cuello en 13 casos, en el tronco en 13, en las extremidades superiores en 11 y en las extremidades inferiores en 43. Veintitrés lesiones (28,8%) se localizaron en piel acral (palmas 5, plantas 18). La localización en el cuero cabelludo fue más frecuente en el sexo femenino (p=0,041). Las lesiones acrales fueron con mayor frecuencia eritematosas (p=0,014). Cinco pacientes presentaron recidiva local. Conclusiones Aunque los poromas son especialmente frecuentes en la piel acral, sobre todo de los pies, en la mayoría de pacientes se localizan en otras regiones anatómicas (71,3%). El aspecto clínico clásico de lesión exofítica eritematosa se observa con una mayor frecuencia en las lesiones acrales. (AU)

Dactilitis producida por sarcoidosis subcutánea como presentación de sarcoidosis / Dactylitis Due to Subcutaneous Sarcoidosis as a Manifestation of Sarcoidosis

La dactilitis o dedo en salchicha, se define como la inflamación de uno o varios dedos de las manos o de los pies. La dactilitis sarcoidea es una forma poco frecuente de dactilitis, que suele ser debida a la afectación ósea granulomatosa a nivel de las falanges subyacentes. Sin embargo, una apariencia clínica similar puede ser debida a la presencia de una sarcoidosis subcutánea en los dedos. Describimos los casos de 5 pacientes con una dactilitis por una sarcoidosis subcutánea de los dedos. En nuestros pacientes, las lesiones se localizaron en las falanges proximales a diferencia de la dactilitis sarcoidea por afectación ósea, que suele localizarse en las falanges medias y distales. Es importante el diagnóstico diferencial puesto que la dactilitis por afectación ósea suele ser mucho más persistente y asociarse a formas crónicas de sarcoidosis (AU)

Dactylitis, or sausage fingers or toes, refers to the swelling of 1 or more digits. Sarcoid dactylitis is an uncommon form that tends to be caused by granulomatous bone involvement in the underlying phalanges. Sarcoid dactylitis can, however, clinically resemble subcutaneous sarcoidosis with finger or toe involvement. We describe 5 patients with dactylitis due to subcutaneous sarcoidosis of the fingers. In all cases, the proximal phalanges were involved; sarcoid dactylitis, by contrast, tends to affect the medial and distal phalanges. Differential diagnosis is important, as dactylitis due to bone involvement tends to be much more persistent and is generally seen in chronic forms of sarcoidosis (AU)

[Translated article] Dactylitis Due to Subcutaneous Sarcoidosis as a Manifestation of Sarcoidosis / Dactilitis producida por sarcoidosis subcutánea como presentación de sarcoidosis

Dactylitis, or sausage fingers or toes, refers to the swelling of 1 or more digits. Sarcoid dactylitis is an uncommon form that tends to be caused by granulomatous bone involvement in the underlying phalanges. Sarcoid dactylitis can, however, clinically resemble subcutaneous sarcoidosis with finger or toe involvement. We describe 5 patients with dactylitis due to subcutaneous sarcoidosis of the fingers. In all cases, the proximal phalanges were involved; sarcoid dactylitis, by contrast, tends to affect the medial and distal phalanges. Differential diagnosis is important, as dactylitis due to bone involvement tends to be much more persistent and is generally seen in chronic forms of sarcoidosis (AU)

La dactilitis o dedo en salchicha, se define como la inflamación de uno o varios dedos de las manos o de los pies. La dactilitis sarcoidea es una forma poco frecuente de dactilitis, que suele ser debida a la afectación ósea granulomatosa a nivel de las falanges subyacentes. Sin embargo, una apariencia clínica similar puede ser debida a la presencia de una sarcoidosis subcutánea en los dedos. Describimos los casos de 5 pacientes con una dactilitis por una sarcoidosis subcutánea de los dedos. En nuestros pacientes, las lesiones se localizaron en las falanges proximales a diferencia de la dactilitis sarcoidea por afectación ósea, que suele localizarse en las falanges medias y distales. Es importante el diagnóstico diferencial puesto que la dactilitis por afectación ósea suele ser mucho más persistente y asociarse a formas crónicas de sarcoidosis (AU)

Dactylitis Due to Subcutaneous Sarcoidosis as a Manifestation of Sarcoidosis. / Dactilitis producida por sarcoidosis subcutánea como presentación de sarcoidosis.

Dactylitis, or sausage fingers or toes, refers to the swelling of 1 or more digits. Sarcoid dactylitis is an uncommon form that tends to be caused by granulomatous bone involvement in the underlying phalanges. Sarcoid dactylitis can, however, clinically resemble subcutaneous sarcoidosis with finger or toe involvement. We describe 5 patients with dactylitis due to subcutaneous sarcoidosis of the fingers. In all cases, the proximal phalanges were involved; sarcoid dactylitis, by contrast, tends to affect the medial and distal phalanges. Differential diagnosis is important, as dactylitis due to bone involvement tends to be much more persistent and is generally seen in chronic forms of sarcoidosis.

Poroma: A Retrospective Series of 80 Patients at a Tertiary Care Hospital. / Poroma. Estudio retrospectivo de 80 pacientes en un hospital terciario.

BACKGROUND: Poroma is a benign, exclusively cutaneous, adnexal tumor with a predilection for palmoplantar skin. OBJECTIVE: To analyze the clinical characteristics of poroma in our population. MATERIAL AND METHODS: Retrospective study of patients diagnosed with poroma between 2002 and 2021. We conducted a chart review to record age; sex; number, location, and diameter of lesions; time since onset; clinical characteristics; suspected clinical diagnosis; resection margin status; recurrences; and follow-up duration. Categorical variables were compared using the Fisher exact test. Continuous variables were compared using the t test or the Mann-Whitney U test depending on whether they were normally or nonnormally distributed. RESULTS: We studied 80 patients (31 women and 49 men) with a median (interquartile range [IQR]) age of 65.5 (29) years. Median time since onset of poroma was 12 (21) months. Median lesion diameter was 8(7)mm, and none of the patients had multiple lesions. The lesions were located on the head and neck in 13 cases, the trunk in 13, the upper extremities in 11, and the lower extremities in 43. Twenty-three lesions (28.8%) were located at acral sites (5 on the palms and 18 on the soles). Women were more likely to have scalp lesions (P=.041). Acral lesions were more likely to be erythematous (P=.014). Five patients experienced local recurrence. CONCLUSIONS: Although poromas are particularly common in acral locations (especially the feet), most of the lesions in our series (71.3%) were located elsewhere. Acral lesions were more likely to show the classic clinical features of erythema and exophytic growth.

Tumor de células granulares. Estudio clínico de 81 pacientes / Granular Cell Tumor: A Clinical Study of 81 Patients

Introducción: El tumor de células granulares (TCG) suele desarrollarse en la piel o en la mucosa oral, pero se ha descrito en muchos otros órganos. Suele ser único, pero puede ser múltiple y asociarse a otras enfermedades. Objetivos: Analizar las características clínicas de nuestros pacientes con TCG en la piel y la mucosa oral y su posible asociación con otras afecciones. Material y métodos: Estudio retrospectivo de los pacientes con TCG diagnosticados entre 1995-2019. Se revisaron las historias clínicas para obtener los siguientes datos: edad, sexo, localización, número de lesiones, diámetro, tiempo de evolución, diagnóstico clínico de sospecha, estado de los márgenes de resección, desarrollo de recidiva, tiempo de seguimiento y enfermedades asociadas. Resultados: Ochenta y un pacientes presentaron 89 TCG en la piel y la mucosa oral (43 mujeres/38 varones, edad media 40,21años). El diámetro medio fue de 1,34cm. Contabilizando los tumores extracutáneos 5 de los 81 pacientes presentaban TCG múltiple (6,2%). La edad media de los pacientes con TCG múltiple fue significativamente inferior a la de los pacientes con un único tumor (p=0,004). Solamente un paciente presentó recidiva local y ninguno desarrolló metástasis a distancia. No hemos detectado ningún caso asociado a otras enfermedades. Conclusiones: La mayoría de TCG son benignos, y a pesar de tener los márgenes afectados no suelen presentar recidivas locales. Sin embargo, hay que tener en cuenta la posibilidad de presentar TCG múltiples, tanto en la piel y en la mucosa oral como en órganos internos, especialmente en pacientes jóvenes (AU)

Introduction: Although a granular cell tumor (GCT) usually develops on the skin or oral mucosa, it has been described in many other organs. GCT typically presents as a solitary tumor, but multiple lesions can occur. It has also been described in association with other diseases. Objective: To describe the clinical characteristics of cutaneous and oral mucosal GCTs and explore potential associations with other diseases. Material and methods: Retrospective study of patients diagnosed with GCT at our hospital between 1995 and 2019. The following information was collected from the patients’ medical records: age, sex, number of GCTs, location, diameter, time to diagnosis, tentative clinical diagnosis, surgical margin status, recurrence, follow-up time, and associated diseases. Results: We detected 89 cutaneous or oral mucosal GCTs in 81 patients (43 women, 38 men) with a mean age of 40.21 years. The mean tumor diameter was 1.34cm. Five of the 81 patients (6.2%) had multiple GCTs, including noncutaneous tumors. Patients with multiple GCTs were on average younger than those with a single tumor (P=.004). There was only a single case of local recurrence and no cases of distant metastasis. None of the patients had associated diseases. Conclusions: Most GCTs are benign and local recurrence is uncommon, even in patients with positive margins. Nevertheless, the possibility of multiple tumors affecting the skin, oral mucosa, or internal organs should be borne in mind, especially in young patients (AU)

Granular Cell Tumor: A Clinical Study of 81 Patients. / Tumor de células granulares. Estudio clínico de 81 pacientes.

INTRODUCTION: Although a granular cell tumor (GCT) usually develops on the skin or oral mucosa, it has been described in many other organs. GCT typically presents as a solitary tumor, but multiple lesions can occur. It has also been described in association with other diseases. OBJECTIVES: To describe the clinical characteristics of cutaneous and oral mucosal GCTs and explore potential associations with other diseases. MATERIAL AND METHODS: Retrospective study of patients diagnosed with GCT at our hospital between 1995 and 2019. The following information was collected from the patients' medical records: age, sex, number of GCTs, location, diameter, time to diagnosis, tentative clinical diagnosis, surgical margin status, recurrence, follow-up time, and associated diseases. RESULTS: We detected 89 cutaneous or oral mucosal GCTs in 81 patients (43 women, 38 men) with a mean age of 40.21 years. The mean tumor diameter was 1.34cm. Five of the 81 patients (6.2%) had multiple GCTs, including noncutaneous tumors. Patients with multiple GCTs were on average younger than those with a single tumor (P=.004). There was only a single case of local recurrence and no cases of distant metastasis. None of the patients had associated diseases. CONCLUSIONS: Most GCTs are benign and local recurrence is uncommon, even in patients with positive margins. Nevertheless, the possibility of multiple tumors affecting the skin, oral mucosa, or internal organs should be borne in mind, especially in young patients.

The human androgen receptor: structure/function relationship in normal and pathological situations.

Discrete functions have been attributed to precise regions of the human androgen receptor (hAR) by expression of deletion mutants in COS and HeLa cells. A large C-terminal domain constitutes the hormone-binding region and a central basis, cysteine-rich domain is responsible for DNA binding. In addition, separate domains responsible for transactivation and nuclear translocation have been identified. In LNCaP cells (a prostate tumor cell line) the hAR is a heterogeneous protein which is synthesized as a single 110 kDa protein, but becomes rapidly phosphorylated to a 112 kDa protein. Metabolic labeling experiments using radioactive orthophosphate also indicated that the hAR is a phosphoprotein. Structural analysis of the AR gene in LNCaP cells and in 46, XY-individuals displaying androgen insensitivity (AIS) has revealed several different point mutations. In LNCaP cells the mutation affects both binding specificity and transactivation by different steroids. In a person with complete AIS a point mutation was identified in the splice donor site of intron 4, which prevents normal splicing and activates a cryptic splice donor site in exon 4. The consequence is a functionally inactive AR protein due to an in-frame deletion in the steroid-binding domain. In two unrelated individuals with complete AIS, two different single nucleotide alterations in codon 686 (Asp) were found. Both mutations resulted in functionally inactive ARs due to rapidly dissociating hormone-AR complexes. It is concluded that the hAR is a heterogeneous phosphoprotein in which functional errors have a dramatic impact on phenotype and fertility of 46, XY-individuals.

The human androgen receptor: domain structure, genomic organization and regulation of expression.

The domain structure and the genomic organization of the human androgen receptor (hAR) has been studied after molecular cloning and characterization of cDNA and genomic DNA encoding the hAR. The cDNA sequence reveals an open reading frame of 2751 nucleotides encoding a protein of 917 amino acids with a calculated molecular mass of 98,845 D. The N-terminal region of the hAR is characterized by a high content of acidic amino acid residues and by several homopolymeric amino acid stretches. The DNA-binding domain showed a high homology with the DNA-binding domain of the human glucocorticoid receptor (hGR) and the human progesterone receptor (hPR). The predominantly hydrophobic steroid binding domain of the hAR is 50-55% homologous with the ligand binding domains of the hGR and hPR. Transient expression of recombinant AR cDNA in COS-cells resulted in the production of a 110 kDa protein with the expected binding specificity of androgen receptors. Co-transfection with a reporter-gene construct [CAT(chloramphenicol acetyl transferase) under direction of the androgen regulated MMTV-promoter] showed that the protein is functionally active with respect to transcription regulation. In the LNCaP prostate carcinoma cell line two major (11 and 8 kb) and one minor (4.7 kb) mRNA species can be found which can be down-regulated by androgens. The hAR protein coding region was shown to be divided over eight exons with an organization similar to that of the progesterone and oestrogen receptor. The sequence encoding the N-terminal domain was found in one large exon. The two DNA-binding fingers were encoded by two small exons; the information for the androgen-binding domain was found to be distributed over five exons. Southern blot analysis of genomic DNA revealed that the hAR is encoded by one single gene, which is situated on the X-chromosome.