UNASSIGNED: This study highlights the first documented cases of angiokeratoma of Fordyce following laser hair removal (LHR) emphasizing the importance of patient selection and careful laser use. It underscores the importance of understanding LHR-associated risks, particularly for patients with darker skin. The efficacy of topical rapamycin as an alternative treatment for angiokeratomas is also discussed.
UNASSIGNED: Laser hair removal (LHR) has emerged as a widely accepted method for achieving long-term hair reduction. While generally considered safe, it is important to study the possible adverse events to optimize patient care. Here, we present a unique case report of angiokeratoma of Fordyce, a rare vascular lesion, following LHR. Two patients experienced the development of these lesions subsequent to LHR treatment sessions, characterized by a severe burning sensation during the procedure. Interestingly, both individuals exhibited varicose veins on their legs, suggesting a potential risk factor for this complication. Our findings highlight the importance of understanding the mechanisms underlying LHR-induced adverse events and the need for further research to elucidate associated risk factors and management strategies. This case report serves to enhance awareness among clinicians and emphasizes the significance of patient counseling regarding the potential side effects of LHR.

Angiokeratoma is a vascular cutaneous disorder that is generally asymptomatic and presents with multiple dark red to blue or black papules over the skin. The prevalence of angiokeratoma increases as the age increases and it is more common after third and fourth decades of life. There are different types of angiokeratoma which may be localized forms (angiokeratoma of Mibelli, angiokeratoma circumscriptum, solitary angiokeratoma, and angiokeratoma of the scrotum or vulva) or diffuse variant (angiokeratoma corporis diffusum). Here, we report a series of five rare cases of angiokeratoma of Fordyce, of which two cases had vulval involvement and one case showed lesions on unilateral scrotal wall which was unusual.

Sarcoidosis, a multifaceted systemic disorder characterized histologically by the presence of non-caseating granulomas, has a wide array of cutaneous manifestations. We describe a case of a 74-year-old woman with a complex medical history, who presented with asymptomatic hyperpigmented papules on her lower extremities. Histological examination of a punch biopsy specimen showed nodular and angiocentric patterns of granulomatous inflammation consistent with sarcoidosis, and chest radiography demonstrated bilateral hilar opacities, supporting the diagnosis. To our knowledge, this specific cutaneous presentation of sarcoidosis has not been described before, and it can easily be mistaken for other conditions. Therefore, this case underscores the importance of recognizing atypical cutaneous morphologies of sarcoidosis, particularly in patients with complex medical histories, to facilitate accurate diagnosis and timely intervention. We aim to increase awareness among clinicians regarding the diverse manifestations of sarcoidosis, thereby enhancing diagnostic acumen and patient care.

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BACKGROUND: Angiokeratoma is a rare cutaneous presentation with unknown etiology.
METHODS: A case of a 10-year male, who was presented to the ENT OPD with a swelling over the posterior aspect of the tongue. The chief complaints included growth on the right side of the posterior third of the tongue which was extending up to the base of the tongue on the same side.
CONCLUSIONS: Excisional biopsy was taken and sent for histopathology which was suggestive of inflamed angiokeratoma. Post-excision there is no recurrence till date.

Eccrine angiokeratomatous hamartoma is a variant of eccrine angiomatous hamartoma. Histopathologically, it shows both features of eccrine angiomatous hamartoma with components of angiokeratoma. Eccrine angiokeratomatous hamartoma is extremely rare. Eccrine angiokeratomatous hamartoma in our case co-existed with intravascular papillary endothelial hyperplasia. This is the first reported case.

Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.

Fabry-Andersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme α-galactosidase A. Fabry disease is a multisystem disease and is characterized by damage to vital organs - kidneys, heart, brain, with the occurrence of complications that cause an unfavorable prognosis. Autoinflammation mechanisms with signs of chronic inflammation are involved in the pathogenesis of the disease. One of the features of Fabry disease are clinical manifestations in the form of arthralgia, fever, skin lesions, which are similar to rheumatological diseases. The article presents a clinical observation of the classical type of Fabry disease with multiple organ manifestation, which required differential diagnosis with rheumatological diseases. Rheumatologists are specialists who are involved in the early diagnosis of Fabry disease, so they should have a high awareness of this sphingolipidosis.
Болезнь Фабри–Андерсена – генетически обусловленное прогрессирующее заболевание, относящееся к лизосомальным болезням накопления, сцепленное с Х-хромосомой, характеризуется нарушением обмена гликосфинголипидов вследствие недостаточности или отсутствия фермента α-галактозидазы А. Болезнь Фабри является мультисистемным заболеванием и характеризуется поражением жизненно важных органов – почек, сердца, головного мозга с возникновением осложнений, вызывающих неблагоприятный прогноз. В патогенезе заболевания участвуют механизмы аутовоспаления с признаками хронического воспаления. Одними из особенностей болезни Фабри являются клинические проявления в виде артралгий, повышения температуры, поражений кожи, которые имитируют ревматологические заболевания. В статье представлено клиническое наблюдение классического варианта болезни Фабри с полиорганной манифестацией, что потребовало дифференциальной диагностики с ревматологическими заболеваниями. Ревматологи – специалисты, вовлеченные в раннюю диагностику болезни Фабри, поэтому они должны иметь высокую осведомленность о данном сфинголипидозе.

(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible, and rapid tool used in dermatology not only for diagnostic processes but also for monitoring therapeutic responses. Standardized terminologies have been published for its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods: Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting a systematic review and comparing its results to our own findings, data of patients diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology, Semmelweis University. (3) Results: Our systematic search provided a total of 471 articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies of 14 genodermatoses. The literature data were then compared to the data of 119 patients with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild. To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized terminologies should be extended to more genodermatoses.

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