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Skin Therapy Letter Mar 2018Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells of... (Review)
Review
Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. The cutaneous hallmark of FD is a specific distribution of angiokeratoma. Other common symptoms include cornea verticillata, acroparesthesia, and sweating abnormalities. FD-specific symptoms, history, as well as examination of angiokeratoma can assist in the differential diagnosis. Enzyme replacement therapy is the current mainstay of treatment.
Topics: Fabry Disease; Humans; Randomized Controlled Trials as Topic
PubMed: 29562089
DOI: No ID Found -
Revista Da Associacao Medica Brasileira... Jan 2020Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between... (Review)
Review
Fabry disease (FD) is a recessive monogenic inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of globotriaosylceramide (Gb3). Gb3 accumulates in lysosomes of different types of cells of the heart, kidneys, skin, eyes, central nervous system, and gastrointestinal system, and may lead to different clinical scenarios. The onset of symptoms occurs during childhood, with acroparesthesia, heat intolerance, and gastrointestinal symptoms, such as nausea, vomiting, abdominal pain, and neuropathic pain. Subsequently, symptoms related to progressive impairment appear, such as angiokeratomas, cornea verticillata, left ventricular hypertrophy, myocardial fibrosis, proteinuria, and renal insufficiency. The latter being the main cause of death in FD. The gold standard for diagnosis is the genetic analysis in search of mutation, in addition to family history. In homozygous patients, the enzyme activity can also be used. Once the diagnosis is confirmed, the patient and their family should receive genetic counseling. The treatment, in turn, currently focuses mainly on replacing the enzyme that is absent or deficient by means of enzyme replacement therapy, with the purpose of avoiding or removing deposits of Gb3. Chaperones can also be used for the treatment of some cases. It is considered that the specific treatment should be initiated as soon as a diagnosis is obtained, which can change the prognosis of the disease.
Topics: Enzyme Replacement Therapy; Fabry Disease; Female; Humans; Kidney; Male; Renal Insufficiency, Chronic; Trihexosylceramides
PubMed: 31939530
DOI: 10.1590/1806-9282.66.S1.10 -
Dermatology Online Journal Nov 2020Angiokeratoma circumscriptum is the rarest variant of angiokeratoma. It usually affects females and it is characterized by dark-red to blue-black confluent papules or...
Angiokeratoma circumscriptum is the rarest variant of angiokeratoma. It usually affects females and it is characterized by dark-red to blue-black confluent papules or nodules on lower limbs in a segmental and unilateral distribution. We describe the clinical and histopathological findings in a patient with angiokeratoma circumscriptum and discuss the etiology, associations, diagnosis, differential diagnosis, and treatment.
Topics: Adult; Angiokeratoma; Diagnosis, Differential; Female; Humans; Lower Extremity; Skin Neoplasms
PubMed: 33342183
DOI: No ID Found -
Cureus Mar 2018Genital rejuvenation is applicable not only to women (vaginal rejuvenation) but also to men (scrotal rejuvenation). There is an increased awareness, reflected by the... (Review)
Review
Genital rejuvenation is applicable not only to women (vaginal rejuvenation) but also to men (scrotal rejuvenation). There is an increased awareness, reflected by the number of published medical papers, of vaginal rejuvenation; however, rejuvenation of the scrotum has not received similar attention in the medical literature. Scrotal rejuvenation includes treatment of hair-associated scrotal changes (alopecia and hypertrichosis), morphology-associated scrotal changes (wrinkling and laxity), and vascular-associated scrotal changes (angiokeratomas). Rejuvenation of the scrotum potentially may utilize medical therapy, such as topical minoxidil and oral finasteride, for scrotal alopecia and conservative modalities, such as depilatories and electrolysis, for scrotal hypertrichosis. Lasers and energy-based devices may be efficacious for scrotal hypertrichosis and scrotal angiokeratomas. Surgical intervention is the mainstay of therapy for scrotal laxity; however, absorbable suspension sutures are postulated as a potential intervention to provide an adequate scrotal lift. Hair transplantation for scrotal alopecia and injection of botulinum toxin into the dartos muscle for scrotal wrinkling are hypothesized as possible treatments for these conditions. The interest in scrotal rejuvenation is likely to increase as men and their physicians become aware of both the conditions of the scrotum that may warrant rejuvenation and the potential treatments of the scrotum for these individuals.
PubMed: 29755912
DOI: 10.7759/cureus.2316 -
Dermatologie (Heidelberg, Germany) Apr 2023Genodermatoses are a group of inherited skin diseases whose diagnosis is challenging due to their rarity as well as their clinical and genetic diversity. The majority... (Review)
Review
Genodermatoses are a group of inherited skin diseases whose diagnosis is challenging due to their rarity as well as their clinical and genetic diversity. The majority of genodermatoses are autosomal or X‑linked inherited, but mosaic forms are also observed. Genodermatoses comprise various phenotypes ranging from limited cutaneous disease to severe cutaneous and extracutaneous involvement and may also be early warning signs of a multisystemic disorder. Despite recent advances in genetic technology and skin imaging modalities, dermoscopy can be useful for screening, diagnosis, and treatment follow-up. In ectopic mineralization and lysosomal storage disorders (pseudoxanthoma elasticum and Fabry disease, respectively), cutaneous manifestations may indicate involvement of other organs. In keratinization diseases (e.g., ichthyoses) and acantholytic skin fragility disorders (e.g., Darier and Hailey-Hailey disease), dermoscopy may help to assess treatment response by visualizing background erythema, hyperkeratosis, and interkeratinocyte space prominence. Dermoscopy is a noninvasive, easily accessible, useful, in vivo assessment tool that is well established in dermatology to recognize characteristic features of genodermatoses.
Topics: Humans; Dermoscopy; Skin; Ichthyosis; Keratosis; Pemphigus, Benign Familial
PubMed: 36882583
DOI: 10.1007/s00105-023-05124-7 -
Actas Dermo-sifiliograficas Oct 2016The term cutaneous pseudolymphoma refers to benign reactive lymphoid proliferations in the skin that simulate cutaneous lymphomas. It is a purely descriptive term that... (Review)
Review
The term cutaneous pseudolymphoma refers to benign reactive lymphoid proliferations in the skin that simulate cutaneous lymphomas. It is a purely descriptive term that encompasses various reactive conditions with a varied etiology, pathogenesis, clinical presentation, histology, and behavior. We present a review of the different types of cutaneous pseudolymphoma. To reach a correct diagnosis, it is necessary to contrast clinical, histologic, immunophenotypic, and molecular findings. Even with these data, in some cases only the clinical course will confirm the diagnosis, making follow-up essential.
Topics: Angiokeratoma; Diagnosis, Differential; Drug Eruptions; HIV Infections; Humans; Immunophenotyping; Insect Bites and Stings; Lyme Disease; Lymphoma, Non-Hodgkin; Pseudolymphoma; Skin Diseases; Skin Neoplasms; Syphilis; Tattooing; Vaccination
PubMed: 27289134
DOI: 10.1016/j.ad.2016.05.003 -
Anales de Pediatria May 2024
Topics: Humans; Angiokeratoma; Skin Neoplasms; Male; Infant, Newborn; Female
PubMed: 38580593
DOI: 10.1016/j.anpede.2024.03.048