Subject(s)
Humans , Male , Adult , Porokeratosis/diagnosis , Porokeratosis/pathology , Porokeratosis/therapyABSTRACT
Porokeratosis comprises a group of heterogeneous and uncommon acquired or congenital skin diseases of unknown origin characterized by a keratinization disorder resulting from abnormal clonal expansion of keratinocytes. Numerous genetic mutations are thought to be involved. These conditions are characterized histologically by the presence of a cornoid lamella. Clinical manifestations are variable, with localized, disseminated, and even eruptive forms. Porokeratosis has been associated with immunosuppression, ultraviolet radiation, and systemic, infectious, and neoplastic diseases. Many authors consider it to be a premalignant condition because of the potential for malignant transformation to squamous cell or basal cell carcinoma. Therefore, long-term follow-up is a key component of treatment, which is usually complex and often unsatisfactory. We review the latest advances in our understanding of the pathogenesis, diagnosis, and treatment and propose a treatment algorithm.
Subject(s)
Porokeratosis , Precancerous Conditions , Skin Neoplasms , Cell Transformation, Neoplastic , Humans , Porokeratosis/diagnosis , Skin Neoplasms/diagnosis , Ultraviolet RaysABSTRACT
Las poroqueratosis son un grupo heterogéneo de trastornos de la queratinización epidérmica, de presentación infrecuente. Se caracterizan clínicamente por pápulas hiperqueratósicas que confluyen y forman placas anulares con un centro atrófico y bordes sobreelevados. Hay seis variantes clínicas. El examen histopatológico evidencia la característica laminilla cornoide. Se presenta el caso de una niña de 2 años con diagnóstico de poroqueratosis de Mibelli y respuesta parcial al tratamiento tópico con tretinoína al 0,025%, que actualmente continúa en seguimiento clínico (AU)
Porokeratosis is a heterogeneous group of disorders in epidermal keratinization. It is an infrequent entity characterized clinically by hyperkeratotic papules that converge forming annular plaques with an atrophic center and raised borders. There are six clinical variants. The histopathological examination evidences the typical cornoid lamella. We present a 2-year-old girl diagnosed with porokeratosis of Mibelli and partial response to topical treatment of tretinoin 0,025%, still under clinical control (AU)
Subject(s)
Humans , Female , Child, Preschool , Porokeratosis/diagnosis , Tretinoin/therapeutic use , Porokeratosis/pathology , Porokeratosis/drug therapy , Keratolytic Agents/therapeutic useSubject(s)
Keratosis/pathology , Porokeratosis/pathology , Porokeratosis/therapy , Administration, Topical , Biopsy, Needle , Child, Preschool , Combined Modality Therapy , Cryotherapy/methods , Diagnosis, Differential , Humans , Immunohistochemistry , Keratosis/diagnosis , Male , Photochemotherapy/methods , Porokeratosis/diagnosis , Prognosis , Rare Diseases , Retinoids/administration & dosage , Risk Assessment , Skin Diseases, Genetic/pathology , Skin Diseases, Genetic/therapyABSTRACT
El Nevo Poroqueratósico del Ostium y el Ducto Dérmico Ecrinos (NPODDE), es un raro hamartoma benigno de los conductos de las glándulas sudoríparas ecrinas, puede presentarse desde el nacimiento o también en edades posteriores. Su etiología plantea una alteración en la queratinización debido a una mutación somática en el gen GJB2 que codifica para una proteína de unión gap. Esta mutación también está relacionada con el síndrome KID por lo cual la asesoría genética es crucial en estos pacientes. Clínicamente puede presentarse como hoyuelos hiperqueratósicos en palmas y plantas que normalmente son asintomáticos. El diagnostico se confirma con la histopato-logía que muestra una laminilla cornoide sobre el conducto ecrino subyacente. La entidad es benigna y de difícil tratamiento siendo refractaria a varias modalidades terapéuticas. Se presenta un caso de un paciente adulto masculino con lesiones típicas en palmas y plantas, a quien con la biopsia de piel se le confirmó el diagnóstico de NPODDE. Dado la baja frecuencia de esta condición el objetivo de este artículo radica en actualizar los aspectos más relevantes de esta entidad.
Porokeratotic Eccrine Ostial and Dermal Duct Nevus (PEODDN) is a rare benign hamartoma of eccrine sweat gland ducts, it can present from birth or also at later ages. Its etiology implies an alteration in keratinization due to a somatic mutation in GJB2 gene, that codes for a gap junction protein. This mutation is also associated with KID syndrome so genetic counseling for parents is crucial. Clinically it can present as keratotic pits in palms and soles that are usually asymp-tomatic. The diagnosis is confirmed by histopathology that shows a cornoid lamellae on the underlying eccrine duct. The entity is benign and the treatment is difficult, being refractory to seve-ral therapeutic modalities. We present a case of a male adult patient with typical lesions on palms and soles, who was diagnosed with PEODDN by skin biopsy. Given the low frequency of this con-dition, the objective of this article is to update the most relevant aspects of this entity.
Subject(s)
Humans , Male , Adult , Skin Diseases/pathology , Porokeratosis/pathology , Nevus, Intradermal/pathology , Eccrine Glands/pathology , Skin Diseases/diagnosis , Porokeratosis/diagnosis , Nevus, Intradermal/diagnosis , HamartomaABSTRACT
RESUMEN Se realizó la presentación de dos pacientes con poroqueratosis de Mibelli por ser una dermatosis poco frecuente, por lo que debe ser de interés para los profesionales de diferentes disciplinas, bien por relacionarse con el cáncer de piel o con disímiles enfermedades. Los pacientes estudiados fueron: paciente femenino de 62 años de edad, piel blanca y ocupación ama de casa. Fue remitida por presentar piel con fototipo cutáneo II, una lesión en placa de color amarillento, bordes elevados, hiperqueratósicos, centro atrófico de 1 cm de diámetro; localizada en cara ántero-externa de pierna derecha. El otro paciente, de 59 años, sexo masculino, piel blanca, y ocupación pescador. Solicitó los servicios por presentar piel fototipo cutáneo II lesión en placa de color amarillento, bordes elevados, hiperqueratósicos, centro atrófico de 2cm de diámetro, localizada en cara póstero-externa de antebrazo derecho. Se les realizó biopsia de ambas lesiones. El diagnóstico fue la poroqueratosis de Mibelli para la prevención del cáncer de piel. Ambos pacientes presentaron en común fototipo cutáneo II y otras manifestaciones cutáneas inducidas por la exposición solar. La terapéutica utilizada fue la extirpación quirúrgica, que resultó también el proceder diagnóstico Se orientaron medidas para la prevención del cáncer de piel con bloqueadores solares, y protegerse de los rayos solares con ropa adecuaday otros accesorios (AU).
ABSTRACT Two patients with Mibelli´s porokeratosis were presented because it is a few frequent dermatosis that might be of interest for professionals of different disciplines since it is related to skin cancer and to several other diseases. The first studied patients was 62 years old, female, white, and a housewife, remitted due to presenting skin with cutaneous phototype II, a yellowish lesion in plaque, risen, hyperkeratoid borders and atrophic center of 1 cm diameter, located in the anterior-external face of the right leg. The other patient was 59 years old, male, white, and a fisherman. He assisted the service presenting skin with cutaneous phototype II, a yellowish lesion in plaque, risen, hyperkeratoid borders and atrophic center of 2 cm diameter, located in the posterior-external face of the right forearm. A biopsy of both lesions was carried out. The diagnosis was Mibelli´s porokeratosis. Both patients presented a common cutaneous phototype II and skin manifestations induced by the sun exposition. The used therapeutic was the surgical removal, that also was the diagnosis procedure. Preventing skin cancer with sun blockers was oriented and also wearing adequate clothes and other accessories (AU).
Subject(s)
Humans , Male , Middle Aged , Skin Diseases , Skin Neoplasms/prevention & control , Porokeratosis/diagnosis , Porokeratosis/therapy , Photochemotherapy , Biopsy/methods , Carcinoma, Squamous Cell , Health Education , Patient Education as Topic , Risk Factors , Protective Factors , Health PromotionABSTRACT
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second. At 4 months of age, she developed a disseminated dermatosis with erythematous scaly nummular plaques, elevated keratotic sharp borders with thin to broad flaking, hematic crusts, and keratotic surface in others. The lesions were slightly pruritic and began at the lower limbs with posterior dissemination to the upper limbs, head, and trunk; palms and soles were unaffected. A skin biopsy showed hyperkeratosis, parakeratosis, acanthosis, and perivascular inflammatory infiltration in the upper reticular dermis among other alterations. She also presented mild bilateral neurosensory hypoacusia and enamel dysplasia. Her karyotype was normal. Treatment with topical hydrating creams partially improved the skin lesions at their center, while the sharply keratotic borders remained, giving a clinical resemblance to porokeratosis. DISCUSSION: The patient suffers from CDAGS syndrome but has normal development, and feet abnormality was described in only one other patient. The treatment with topical hydrating creams improved the skin lesions at their center, while porokeratotic characteristics persisted. CDAGS remains a diagnostic challenge; a comparison with previously reported cases is discussed. The timely detection of the syndrome will allow early treatment that may improve the condition of the patients.
Subject(s)
Anal Canal/abnormalities , Craniosynostoses/diagnosis , Craniosynostoses/pathology , Digestive System Abnormalities/diagnosis , Digestive System Abnormalities/pathology , Porokeratosis/diagnosis , Porokeratosis/pathology , Skin Abnormalities/pathology , Skin Cream/therapeutic use , Anal Canal/diagnostic imaging , Anal Canal/pathology , Child, Preschool , Craniosynostoses/diagnostic imaging , Craniosynostoses/drug therapy , Digestive System Abnormalities/diagnostic imaging , Digestive System Abnormalities/drug therapy , Female , Humans , Imaging, Three-Dimensional , Mexico , Porokeratosis/diagnostic imaging , Porokeratosis/drug therapy , Tomography, X-Ray ComputedABSTRACT
Las poroqueratosis constituyen un grupo hererogéneo de trastornos de la queratinización caracterizados por placas anulares de borde elevado queratósico con histopatología que muestra lamelas cornoides. La poroqueratosis genitoglútea (PPG) es una rara variedad, con lesiones inflamatorias, eritematosas, con variable descamación, que suelen confurndirse con enfermedades venéreas, especialmente las provocadas por HPV. Se presenta un paciente con más de 20 años de evolución de la enfermedad, sin diagnóstico previo de la misma, tratado como enfermedad infecciosa...
Subject(s)
Humans , Male , Porokeratosis/diagnosis , Porokeratosis/pathology , Condylomata Acuminata , Genital Diseases, Male/pathologySubject(s)
Humans , Adolescent , Female , Porokeratosis/diagnosis , Buttocks , Diagnosis, Differential , Porokeratosis/pathology , Porokeratosis/therapyABSTRACT
Porokeratosis is a rare group of keratinizing diseases. It is inherited as an autosomal dominant disease with variable penetrance, although sporadic cases are often reported. Porokeratosis has as its histological hallmark the typical cornoid lamella. Porokeratosis lesions localized on the face can vary from superficial to destructive in nature. Only 12 cases have been reported in the literature to date. We report one more unusual case of destructive facial porokeratosis.
Subject(s)
Facial Dermatoses/diagnosis , Porokeratosis/diagnosis , Adult , Diagnosis, Differential , Humans , Lip Diseases/diagnosis , Male , Nose Diseases/diagnosisABSTRACT
The coexistence of linear porokeratosis (LP) and disseminated superficial actinic porokeratosis (DSAP) in a 3-year-old girl with a family history of DSAP is presented. Happle proposed loss of heterozygosity (LOH) to explain the origin of this unusual phenomenon. Homozygosity would explain why lesions in LP are far more pronounced than those of the associated heterozygous DSAP lesions. LOH would also explain the early age of presentation of the linear lesions, the family history of DSAP, and why LP cases are particularly prone to malignant transformation. This case is also important for molecular studies because of the presence of heterozygous and homozygous mutated cells in the same patient and the familial occurrence of the heterozygous form of the disease.
Subject(s)
Genetic Predisposition to Disease , Loss of Heterozygosity , Porokeratosis/diagnosis , Child, Preschool , Diagnosis, Differential , Female , Humans , Porokeratosis/complications , Porokeratosis/genetics , Porokeratosis/pathologyABSTRACT
La poroqueratosis actínica diseminada (PASD) es una genodermatosis de aparición tardía, que se ve en personas de piel blanca con antecedentes de exposición solar. Se caracteriza por lesiones anulares, constituidas por un discreto rodete hiperqueratósico, con neto predominio en zonas más fotoexpuestas -brazos y piernas. Pueden o no ser sintomáticas. La respuesta a distintas terapéuticas es pobre a nula. Presentamos 12 casos de PASD de nuestra experiencia y realizamos una revisión del tema (AU)
Subject(s)
Humans , Male , Adult , Female , Middle Aged , Porokeratosis/diagnosis , Immunosuppression Therapy/adverse effects , Porokeratosis/pathology , Porokeratosis/complications , Immunosuppressive Agents/adverse effects , Acquired Immunodeficiency Syndrome/complications , Sunlight/adverse effectsABSTRACT
Se presenta un caso de poroqueratosis de Mibelli, forma sistematizada hemicorporal. Se confirma diagnóstico clínico con exámenes histopatológicos y se realizan estudios de proteína p53. La rareza de ésta variante clínica y el haber estudiado a la paciente en diferentes períodos de su vida, permite establecer un adecuado control evolutivo y vigilancia de su enfermedad debido a su resistencia terapéutica y posibilidad de malignización (AU)
Subject(s)
Humans , Female , Porokeratosis/diagnosis , Porokeratosis/pathology , Genes, p53 , Immunohistochemistry , Precancerous Conditions , Skin NeoplasmsABSTRACT
La poroqueratosis se clasifica dentro del grupo de desórdenes de la cornificación. Sus diversas formas de presentación están marcadas con el distintivo histológico de la lámina cornoide. Durante los años 1997 y 1998 tuvimos oportunidad de observar a cinco pacientes co formas distintas de presentación. Este trabajo reúne los casos clínicos de la práctica privada y del Servicio de Dermatología del Hospital Regional Guillermo Grant Benavente. Se incluye la revisión sobre esta patología