Subject(s)
Agammaglobulinemia/diagnosis , Livedo Reticularis/diagnosis , Severe Combined Immunodeficiency/diagnosis , Agammaglobulinemia/genetics , Biopsy , Child, Preschool , Diagnosis, Differential , Humans , Livedo Reticularis/genetics , Lower Extremity , Male , Severe Combined Immunodeficiency/geneticsABSTRACT
Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. This disturbance causes an accumulation and increased renal excretion of homogentisic acid (AHG), which manifests as dark urine when it oxidizes on contact with air. Other clinical manifestations of OE are the result of the deposit of AHG in the form of ochronotic pigment at the level of collagen in the skin and cartilage, where it causes blue-gray cutaneous hyperpigmentation, degenerative arthropathy, valvular disease, and other multisystem effects. Despite the progressive and irreversible nature of OE and the lack of a curative treatment, the life expectancy is preserved. We report a new case of EO with cutaneous and joint involvement, in which a high clinical suspicion, confirmed by elevated AHG in urine was the key in the diagnosis.
Subject(s)
Alkaptonuria/diagnosis , Homogentisic Acid/urine , Hyperpigmentation/etiology , Joint Diseases/etiology , Ochronosis/diagnosis , Alkaptonuria/complications , Alkaptonuria/urine , Female , Humans , Middle Aged , Ochronosis/etiologyABSTRACT
Exogenous ochronosis (EO) is an entity that manifests as black-bluish or grayish-brown cutaneous hyperpigmentation, which is a consequence of the deposition of ochronotic pigment with characteristic banana-like morphology between the collagen fibers of the dermis. Both the clinical presentation and histopathology appearance are superimposable with endogenous ochronosis or alcaptonuria, a hereditary disease in which ochronotic pigment deposition occurs at a multisystemic level. The most frequent cause of EO is the use of facial depigmenting creams containing hydroquinone, a common practice among women with high phototypes. We present a woman who developed EO on the face, upper chest, and back after prolonged use of a depigmenting cream containing hydroquinone.
Subject(s)
Antioxidants/adverse effects , Hydroquinones/adverse effects , Hyperpigmentation/chemically induced , Ochronosis/chemically induced , Skin Lightening Preparations/adverse effects , Back , Facial Dermatoses/chemically induced , Female , Humans , Hyperpigmentation/pathology , Middle Aged , Ochronosis/pathology , ThoraxABSTRACT
El leiomioma del pezón es un tumor benigno y poco frecuente originado a partir de las fibras de músculo liso del tejido subareolar de la mama. Presentamos el caso de un varón con un leiomioma en el complejo areola-pezón izquierdo, destacando las características clínicas e histológicas de estos tumores, así como su manejo
Leiomyoma of the nipple is a rare benign tumour that is thought to arise from smooth muscle fibres in the subareolar tissue of the breast. We report the case of a male patient with a leiomyoma arising from his left nipple-areola complex. The clinical characteristics, gross and microscopic pathologic findings, and management of this lesion are discussed