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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 -
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 -
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 -
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 -
Movement Disorders Clinical Practice Jul 2022Skin manifestations are well-recognized non-motor symptoms of Parkinson's disease (PD) and other hypokinetic and hyperkinetic movement disorders. Skin conditions are... (Review)
Review
Skin manifestations are well-recognized non-motor symptoms of Parkinson's disease (PD) and other hypokinetic and hyperkinetic movement disorders. Skin conditions are usually well visible during routine clinical examination and their recognition may play a major role in diagnostic work-up. In this educational review we: (1) briefly outline skin conditions related to Parkinson's disease, including therapy-related skin complications and their management; (2) discuss the role of skin biopsies in early diagnosis of PD and differential diagnosis of parkinsonian syndromes; and focus more on areas which have not been reviewed in the literature before, including (3) skin conditions related to atypical parkinsonism, and (4) skin conditions related to hyperkinetic movement disorders. In case of rare hyperkinetic movement disorders, specific dermatological manifestations, like presence of angiokeratomas, telangiectasias, Mongolian spots, lipomas, ichthyosis, progeroid skin changes and others may point to a very specific group of disorders and help guide further investigations.
PubMed: 35844274
DOI: 10.1002/mdc3.13436