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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 -
Annales de Dermatologie Et de... Feb 2017Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or... (Review)
Review
Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease. Angiokeratomas are the most common cutaneous sign of this disease, although they are not specific to it and must be distinguished from angiokeratomas either occurring in isolation or associated with systemic diseases. Other cutaneous signs encountered in this disease include hyperhidrosis, oral lesions, lower limb oedemas, etc. The diagnosis is mainly clinical and should be considered in the presence of a personal and/or familial history; it is confirmed by assay of enzyme activity within leucocytes or by molecular studies. Management is multidisciplinary and involves symptomatic treatment as well as specific treatment, resulting in improved survival and enhanced quality of life for patients presenting the disease. Enzyme replacement therapy with alpha-galactosidase A forms the cornerstone of specific treatment and may be associated with other types of treatments such as galactose and molecular chaperones. Gene therapy is now also used extensively. At present, these marked therapeutic advances, which closely involve dermatologists, could help transform the prognosis for patients presenting Fabry disease.
Topics: Adolescent; Adult; Diagnosis, Differential; Fabry Disease; Female; Humans; Interdisciplinary Communication; Intersectoral Collaboration; Male; Prognosis; Young Adult; alpha-Galactosidase
PubMed: 28104284
DOI: 10.1016/j.annder.2016.10.010 -
Handbook of Clinical Neurology 2015Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many... (Review)
Review
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Virtually all complications of Fabry disease are non-specific in nature and clinically indistinguishable from similar abnormalities that occur in the context of more common disorders in the general population. Recent studies suggested a much higher incidence of mutations of the GLA gene, suggesting that this disorder is under-diagnosed. However, some of the gene variants may be benign. Although the etiology of Fabry disease has been known for many years, the mechanism by which the accumulating α-D-galactosyl moieties cause this multi organ disorder has only recently been studied and is yet to be completely elucidated. Specific therapy for Fabry disease has been developed in the last few years but its role in the management of the disorder is still being investigated. Fortunately, standard 'non-specific' medical and surgical therapy is effective in slowing deterioration or compensating for organ failure in patients with Fabry disease.
Topics: Fabry Disease; Female; Humans; Male; Mutation; alpha-Galactosidase
PubMed: 26564084
DOI: 10.1016/B978-0-444-62702-5.00017-2 -
Current Pharmaceutical Design 2020Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly... (Review)
Review
Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry's disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy. This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.
Topics: Enzyme Replacement Therapy; Fabry Disease; Female; Genetic Therapy; Humans; Kidney; Male; alpha-Galactosidase
PubMed: 32183665
DOI: 10.2174/1381612826666200317142412 -
Anales de Pediatria May 2024
Topics: Humans; Angiokeratoma; Skin Neoplasms; Male; Infant, Newborn; Female
PubMed: 38580593
DOI: 10.1016/j.anpede.2024.03.048 -
Polish Archives of Internal Medicine May 2023
Topics: Humans; Angiokeratoma; Enoxaparin; Skin Neoplasms
PubMed: 36916492
DOI: 10.20452/pamw.16463 -
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 -
Annales de Dermatologie Et de... Sep 2020
Topics: Angiokeratoma; Humans; Skin Neoplasms
PubMed: 32359695
DOI: 10.1016/j.annder.2020.04.003 -
International Journal of Dermatology Jun 2019Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases... (Review)
Review
INTRODUCTION
Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals.
METHODS AND CASE
We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy and histological features. Additionally, we reviewed the cases of healthy subjects illustrating the limitations of each case and comparing these results with our case.
DISCUSSION
Angiokeratoma corporis diffusum is mostly related to Fabry disease and other lysosomal storage disorders. However, some cases may occur in apparently healthy individuals. Therefore, there is a increasing interest in its etiology, pathogenesis and clinical evaluation.
CONCLUSION
This is an academic-clinical review on angiokeratomas and their main implications in daily dermatological practice. Additionally, we report the first case in the literature of angiokeratoma corporis diffusum in a healthy patient with up-to-date laboratory methods currently available. The clinician should remember that not all angiokeratoma corporis diffusum occurs with lysosomal storage disorders.
Topics: Adult; Angiokeratoma; Biopsy; Dermoscopy; Diagnosis, Differential; Fabry Disease; Female; Humans; Skin; Skin Neoplasms
PubMed: 30656678
DOI: 10.1111/ijd.14330 -
Dermatology and Therapy Aug 2020Angiokeratomas are benign vascular lesions. Genital angiokeratomas, also referred to as Fordyce angiokeratomas, usually occur on the scrotum in men and the vulva in... (Review)
Review
Angiokeratomas are benign vascular lesions. Genital angiokeratomas, also referred to as Fordyce angiokeratomas, usually occur on the scrotum in men and the vulva in women. Penile angiokeratoma (PEAKER) is a subtype of genital angiokeratoma in men; clitoral angiokeratoma (CLANKER) is its embryologic analog in women. The PubMed database was used to search the following words: angiokeratoma, clitoris, genital, peaker, penile, penis, rejuvenation, scrotal, scrotum and vulva. The relevant papers and references cited in those papers that were generated by the search were reviewed. The purpose of this article is to summarize the features of PEAKERs. PEAKERs have been described in 54 men. They usually appeared in younger men and had been present for a mean duration of 4 years prior to the individual seeking medical attention. Only 39% of the men had angiokeratoma-associated symptoms: usually bleeding and increasing size and less often abrupt onset, pain and pruritus. The glans penis (55.5%) and the penile shaft (35%) were the most common sites of PEAKERs; the angiokeratomas were also located on the foreskin (5.5%) or both the glans penis and penile shaft (4%). Thirty seven percent of patients with glans penis PEAKERs only had angiokeratomas on the corona. Scrotal angiokeratomas were also present in 20% of patients with PEAKERs. A solitary PEAKER was observed in 32% of the men. Most of the PEAKERs were 1-5 mm in size. The PEAKERs presented as purple, red and/or blue papules; 70% of the men's PEAKERs were more than one color. Clinical features often established the diagnosis; in addition, some of the men's angiokeratomas were biopsied or evaluated with dermoscopy. Laser therapy, in 56% of the men, was the most common treatment modality. Less common interventions included electrocautery, radiofrequency and excision. PEAKER recurrence or persistence was observed after excision (two men) or cryotherapy (one man), respectively. Several of the men (27%) decided to observe their PEAKERs without treatment.
PubMed: 32506249
DOI: 10.1007/s13555-020-00399-3