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Obstetrics and Gynecology International 2019Gynecology and dermatology share the diagnosis and the management of some disorders of the female external genital area. In the last decade, clinical diagnosis in... (Review)
Review
BACKGROUND
Gynecology and dermatology share the diagnosis and the management of some disorders of the female external genital area. In the last decade, clinical diagnosis in dermatology has dramatically improved, thanks to the introduction of dermatoscopy.
TECHNIQUE
Dermatoscopy is a noninvasive, rapid, and simple technique performed with an affordable handheld instrument called dermatoscope, endowed with a light source and a high-quality lens achieving 10 times magnification.
EXPERIENCE
The use of dermatoscopy for the diagnosis of some common external genital disorders, i.e., genital warts (GW), vestibular papillomatosis (VP), molluscum contagiosum (MC), angiokeratoma (AK), and pediculosis pubis (PP), is presented and discussed.
CONCLUSION
The use of dermatoscopy in a gynecologic office may considerably help the specialist to enhance in selected cases the clinical diagnosis and to avoid unnecessary and cumbersome investigations which may be time and money consuming.
PubMed: 31737074
DOI: 10.1155/2019/1830245 -
Dermatopathology (Basel, Switzerland) Aug 2021The term "pseudomalignancy" covers a large, heterogenous group of diseases characterized by a benign cellular proliferation, hyperplasia, or infiltrate that resembles a... (Review)
Review
The term "pseudomalignancy" covers a large, heterogenous group of diseases characterized by a benign cellular proliferation, hyperplasia, or infiltrate that resembles a true malignancy clinically or histologically. Here, we (i) provide a non-exhaustive review of several inflammatory skin diseases and benign skin proliferations that can mimic a malignant neoplasm in children, (ii) give pathologists some helpful clues to guide their diagnosis, and (iii) highlight pitfalls to be avoided. The observation of clinical-pathological correlations is often important in this situation and can sometimes be the only means (along with careful monitoring of the disease's clinical course) of reaching a firm diagnosis.
PubMed: 34449607
DOI: 10.3390/dermatopathology8030042 -
Indian Journal of Dermatology,... Mar 2024
PubMed: 38595012
DOI: 10.25259/IJDVL_1225_2023 -
Proceedings (Baylor University. Medical... 2022An angiokeratoma is a benign vascular lesion that appears as one or more red to black papules with a verrucous surface. Histologically, it is defined by ectatic,...
An angiokeratoma is a benign vascular lesion that appears as one or more red to black papules with a verrucous surface. Histologically, it is defined by ectatic, thin-walled vessels in the papillary dermis, acanthosis with elongated rete ridges, and compact hyperkeratosis. Solitary angiokeratoma is one of five defined subtypes of angiokeratoma. We report the case of an 18-year-old woman with a "wart" that had been present for many years. After treatment with several over-the-counter wart therapies, several rounds of paring plus cryotherapy, and antigen injections failed, a shave biopsy was taken to remove the lesion, and histopathologic examination was consistent with an angiokeratoma. This case demonstrates the importance of considering angiokeratoma in the differential diagnosis of a wart, particularly one recalcitrant to treatment.
PubMed: 35754585
DOI: 10.1080/08998280.2022.2068945 -
Cardiovascular Diagnosis and Therapy Apr 2021Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in... (Review)
Review
Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in the AGAL-A gene (). Tissue and organ changes are caused by widespread progressive accumulation of globotriaosylceramide (Gb) and globotriaosylsphingosine (lysoGb). The classical form of FD is multisystemic with cutaneous (angiokeratomas), neurological (peripheral neuropathy, premature stroke), renal (proteinuria and renal insufficiency), and cardiac involvement. Later onset variants may be limited to the heart. The objective of this review is to summarize the current knowledge on cardiac manifestations of FD and effects of targeted therapy. Cardiac involvement is characterized by progressive hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death (SCD). Targeted therapy is based on enzyme replacement therapy (ERT). Recently, small molecular chaperone, migalastat, became available for patients carrying amenable pathogenic GLA variants. The management of cardiac complications requires a complex approach. Several measures differ from standard clinical guidelines. Betablockers should be used with caution due to bradycardia risk, amiodarone avoided if possible, and anticoagulation used from the first appearance of atrial fibrillation. In Fabry cardiomyopathy SCD calculators are inappropriate. The awareness of FD manifestations is essential for early identification of patients and timely treatment initiation.
PubMed: 33968642
DOI: 10.21037/cdt-20-593 -
Biomedicine & Pharmacotherapy =... Nov 2020Fabry disease (FD) is an X-linked disorder caused by mutations in GLA gene responsible for coding of the lysosomal enzyme alpha-galactosidase A(α-GAL). The resultant... (Review)
Review
Fabry disease (FD) is an X-linked disorder caused by mutations in GLA gene responsible for coding of the lysosomal enzyme alpha-galactosidase A(α-GAL). The resultant accumulation of globotriaosylceramide (Gb-3) leads to multisystemic disease including progressive chronic kidney disease, hypertrophic cardiomyopathy, stroke, angiokeratomas and corneal whorls. Current treatments include enzyme replacement therapy (ERT), along with recent advent of chaperone therapy. ERT has not shown to have dramatic improvement in outcomes for all organ systems, with benefit mostly seen in kidney disease and reduction in left ventricular hypertrophy. ERT, however, is associated with formation of anti-drug antibodies and requirement of long-term venous access, while chaperone therapy can only be used in amenable mutations. A multitude of therapies are now under investigation in various phases of clinical trials. These include pegylated form of α-GAL (pegunigalsidase alpha), gene therapy (both in-vivo and ex-vivo methods), mRNA therapy (inducing production of α-GAL) and substrate reduction therapy (inhibitors of glucosylceramide synthase leading to reduction of Gb-3). This review encapsulates literature pertaining to current and investigational therapies for FD.
Topics: Animals; Enzyme Replacement Therapy; Fabry Disease; Genetic Therapy; Humans; Molecular Chaperones; Mutation; RNA, Messenger; Trihexosylceramides; alpha-Galactosidase
PubMed: 33152937
DOI: 10.1016/j.biopha.2020.110779 -
Cureus Dec 2021Cutaneous metastases occur in approximately 10% of oncology patients as a feature of a persistent solid tumor or the harbinger of recurrent neoplastic disease. However,...
Cutaneous metastases occur in approximately 10% of oncology patients as a feature of a persistent solid tumor or the harbinger of recurrent neoplastic disease. However, they can be the presenting manifestation of an unsuspected visceral malignancy in one percent of previously cancer-free individuals. Metastatic skin lesions from breast carcinoma are diverse in their appearance. The clinical presentation of cutaneous metastases in three women with breast cancer is described and both the morphology of skin metastases caused by breast carcinoma and the conditions that are mimicked by breast cancer cutaneous metastases are reviewed. Skin metastases from breast carcinoma commonly appear as firm, flesh-colored to red, smooth or ulcerated or crusted, nodules, papules, and plaques on the ipsilateral chest wall and breast. However, unique sites of breast cancer cutaneous metastases are the eyelids, inframammary folds, ipsilateral lymphedematous arm, scalp, subungual nail bed, and umbilicus; in addition, skin metastases can occur in mastectomy scars and radiation therapy ports. Carcinoma erysipelatoides, carcinoma telangiectoides, and carcinoma en cuirasse are classic patterns of skin metastases that can be observed in breast cancer patients; carcinoma hemorrhagiectoides is a recently observed skin metastases pattern that has also been noted in oncology patients with breast carcinoma. The pleomorphic skin lesions of breast cancer metastases can masquerade as benign cutaneous lesions and tumors (such as a collision tumor, cyst, dermatofibroma, and milia-en-plaque), cutaneous malignancies (such as melanoma and non-melanoma skin cancers), infections (such as cellulitis, folliculitis, herpes zoster, and paronychia), reactive erythema (such as erythema annulare centrifugum, and urticaria), skin conditions (such as alopecia areata, dermatitis, hidradenitis suppurativa, and scleroderma), and vascular lesions (such as angiokeratoma, angiosarcoma, lymphangioma circumscriptum, purpura, and pyogenic granuloma). In addition, breast carcinoma cutaneous metastases can not only mimic other miscellaneous conditions such as erosions and ulcers, Paget's disease, and papillomatosis cutis lymphostatica but also have unusual morphology such as targetoid lesions or a sharply demarcated red infiltration of the nasal tip similar to a clown's nose. The possibility of a breast cancer cutaneous metastasis should be considered in the evaluation of a patient with breast cancer--and although less likely, in a cancer-free individual--who develops a new and/or a treatment-unresponsive cutaneous lesion. A biopsy of the skin lesion is necessary to confirm the diagnosis of breast cancer cutaneous metastasis.
PubMed: 35028206
DOI: 10.7759/cureus.20301 -
Internal Medicine (Tokyo, Japan) May 1992A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain... (Review)
Review
A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum alpha-galactosidase A. These findings confirmed the diagnosis of Fabry's disease.
Topics: Adult; Cytoplasmic Granules; Endothelium, Vascular; Fabry Disease; Humans; Male
PubMed: 1324036
DOI: 10.2169/internalmedicine.31.682 -
Deutsches Arzteblatt International Jun 2009Data obtained from screened newborns and from persons at known risk for Fabry disease suggest that this condition is much more common in Germany than previously assumed.... (Review)
Review
BACKGROUND
Data obtained from screened newborns and from persons at known risk for Fabry disease suggest that this condition is much more common in Germany than previously assumed. Its clinical manifestations are very diverse, and its differential diagnosis is correspondingly broad. Thus, there is often a delay before the diagnosis of Fabry disease is established.
METHODS
Selective literature search with special attention to studies of large groups of patients with respect to clinical manifestations, diagnostic evaluation, and treatment.
RESULTS
The number of patients carrying the diagnosis of Fabry disease in Germany lies far below what would be expected from published prevalence figures from other countries. Angiokeratoma, acroparesthesia, hypertrophic cardiomyopathy, impaired sweating and corneal opacification (cornea verticillata) are typical manifestations of Fabry disease; many patients also have other, nonspecific complaints, such as gastrointestinal disturbances. It has been clearly shown that women can manifest the entire range of clinical manifestations. Studies involving large groups of patients have improved our understanding of hearing impairment and tinnitus in Fabry disease. Therapeutic trials are currently in progress to determine whether enzyme substitution can delay the occurrence of life-threatening sequelae such as progressive renal failure and cerebrovascular events.
CONCLUSIONS
Fabry disease is still underdiagnosed. The average delay from the onset of symptoms to diagnosis is more than a decade. Treatment with human alpha-galactosidase A produced with genetic technology can improve most of the disease's manifestations.
Topics: Diagnostic Errors; Fabry Disease; Humans
PubMed: 19623315
DOI: 10.3238/arztebl.2009.0440 -
The Pan African Medical Journal 2018Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression,...
Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload disease known as Fabry Disease. Here we report the case of a 56-year old patient, with no notable medical history, presenting with nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules without extracutaneous manifestations on the left malar region, that had occurred 4 months before. Diascopy revealed partially emptied papules with keratotic surface. Kaposi syndrome, melanoma, carcinoma or angiokeratoma were suspected. Histological examination revealed angiokeratoma. Treatment based on electrocoagulation was proposed to the patient.
Topics: Angiokeratoma; Diagnosis, Differential; Electrocoagulation; Hemorrhage; Humans; Male; Middle Aged; Skin Neoplasms
PubMed: 30374386
DOI: 10.11604/pamj.2018.30.140.14943