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Nonmelanocytic Lesions
Published in Ashfaq A Marghoob, Ralph Braun, Natalia Jaimes, Atlas of Dermoscopy, 2023
Nicole Nagrani, Natalie M. Williams, Natalia Jaimes
Angiokeratomas are acquired benign vascular proliferations that result from the dilation of pre-existing blood vessels. Angiokeratomas present as solitary or clustered, red to violaceous, nonkeratotic papules, ranging from 2 to 10 mm in diameter. As they grow, they become dark red to blue colored and more firm, with a scaly surface or verrucous appearance.7 The most common variants include the solitary, multiple, and vulva or scrotum variants. The solitary and multiple variants are primarily found on the lower extremities but may present anywhere on the body; those located on the vulva or scrotum, also known as Fordyce spots, are usually multiple, red-to-purple, small papules of less than 5 mm. Other clinical variants include the angiokeratoma of Mibelli, which typically presents on the dorsal and lateral aspects of the fingers and toes of children and teenagers; the angiokeratoma corporis diffusum, characterized by multiple papules in a bathing trunk distribution (i.e., trunk and buttocks); and the angiokeratoma circumscriptum that appears in childhood as grouped or confluent papules on the trunk, arms, or legs.8 Clinically, angiokeratomas may appear similar to other vascular or nonvascular tumors such as melanocytic nevi, Spitz nevi, melanoma, pigmented basal cell carcinoma, seborrheic keratoses, and dermatofibromas. Histologically, angiokeratomas are characterized by dilated blood vessels in the papillary dermis and epidermal changes, including acanthosis and varying degrees of overlying hyperkeratosis.
Galactosialidosis
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The late infantile form of the disease may be evident as early as the first month of life. Patients have coarse features, hepatosplenomegaly, and dysostosis multiplex with the appearance of mucopolysaccharidosis [5, 17, 37–39]. Some have had cherry red spots and/or corneal clouding [17, 38]; others have not [5, 37]. Generalized seizures or petit mal has rarely been observed [5]. Impaired mental development in these patients has generally been mild. Neurologic deterioration has not generally been seen [5]. Cardiac involvement is a regular feature of the disease. Valvular involvement has included thickened mitral and aortic valves. Aortic valve replacement has been required by 16 years of age [37]. Hearing loss may be conductive or mixed. Shortness of stature may be a consequence of disease of the spine, and there may be atrophy of the muscles. Angiokeratomas are uncommon.
Nonpigmented skin lesions
Published in Giuseppe Micali, Francesco Lacarrubba, Dermatoscopy in Clinical Practice, 2018
Anna Elisa Verzì, Francesco Lacarrubba, Giuseppe Micali
Dermatoscopic features of angiokeratoma are represented by a spectrum of signs including red lacunae, dark lacunae, whitish veil, erythema, and hemorrhagic crusts (Figures 23.1b, 23.2b).1,4–6 Red lacunae appear as sharply ovoid/ roundish red or red-blue structures corresponding to wide dilated vascular spaces located in the upper or middle dermis. Dark lacunae are the most peculiar features; they appear as sharply ovoid/round dark blue to black areas and represent dilated vascular spaces in the upper dermis partially or completely thrombosed. Whitish veil refers to an ill-defined structureless area with an overlying whitish “ground-glass” film due to hyperkeratosis and acanthosis. Erythema and peripheral erythema, due to inflammation and erythrocyte extravasation, appear as pinkish homogeneous areas. Finally, hemorrhagic crusts correspond to occasional bleeding by trauma.1,6 Three main dermatoscopic patterns of angiokeratomas have been described: pattern 1, the most frequently observed, consists of dark lacunae and whitish veil; pattern 2 shows dark lacunae, whitish veil, and peripheral erythema; pattern 3 includes dark lacunae, whitish veil, and hemorrhagic crusts.1
Genetic diseases mimicking multiple sclerosis
Published in Postgraduate Medicine, 2021
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Common syndromes experienced by FD patients are pain in extremities, cloudy vision, hearing loss, angiokeratoma along with cardiac and renal dysfunctions [104,105]. Angiokeratoma is characteristic of FD but more common to occur in childhood [106] (Figure 6). Cardiomyopathy and myocardial fibrosis are the most frequent cardiac manifestations in adult-onset FD. A transient ischemic attack can happen and often results in substantial morbidity or death [105,106]. Renal failure and proteinuria are seen in most male FD patients as the disease progresses [104]. Pain is the first manifestation of FD, however, the lack of accompanying findings such as tenderness or swelling make the early recognition of FD difficult. Fabry crisis describes episodes of excruciating pain and burning sensation typically starts in extremities and can radiate to other body parts. The crisis occurs as the result of environmental triggers ranging from stress, heat to exercise and infection. Yet the numbers of the crisis appear to decrease as patients age [103]. Cornea verticillata can be an important diagnostic clue for FD and is present in around 30% of the late-onset individuals [107](Figure 7).
Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report
Published in Renal Failure, 2020
Ruixiao Zhang, Zeqing Chen, Yanhua Lang, Shihong Shao, Yan Cai, Qingqing You, Yan Sun, Sai Wang, Xiaomeng Shi, Zhiying Liu, Wencong Guo, Yue Han, Leping Shao
The pedigree of the family is shown in Figure 1. The proband (IIb) was a 32-year-old man, who was admitted to our hospital because of generalized edema for 1 month. He denied other any abnormal symptoms, such as hypohidrosis, nocturia, and any history of acroanesthesia, episodic hand or foot pain. Physical examination revealed his blood pressure of 145/96 mmHg, a few scattered angiokeratoma on his low back skin (Figure 2(A)), and edema in his both lower extremities and eyelid. Table 1 shows the proband’s laboratory data. In the laboratory work-up, repeat urinalysis demonstrated 3+ protein. The urinary total protein excretion was 6.38 g/d and the serum albumin level was 28 g/L. The concentrations of serum urea and creatinine were 6.21 mmol/L and 95 μmol/L (CKD-EPI estimated GFR = 90.9 mL/min/1.73 m2), respectively. The electrocardiogram showed sinus tachycardia with high P waves in II, III, and aVF leads, and left ventricular high voltage. Ultrasonography of his both kidneys manifested elevated echogenicity of parenchyma without obvious kidney shrinkage. Examination of transthoracic echocardiography, audiometry, ophthalmology, and brain MRI were normal. Therefore, he was then diagnosed as NS. Immediately after, oral steroid methylprednisolone was initiated at a dose of 32 mg/day, and immunosuppressant tacrolimus was prescribed at a single dose of 1.5 mg, twice per day. In addition, angiotensin II receptor blocker valsartan was used to reduce proteinuria and blood pressure.
The application of 595-nm pulsed dye laser for vascular anomalies in a Chinese population: a 10-year experience
Published in Journal of Cosmetic and Laser Therapy, 2019
Mao-ying Lin, Chrang-shi Lin, Sindy Hu, Juo-mei Chang, Wen-hung Chung, Zhi-yang Zhang, Sheng-cheng Chang, Yu-ping Huo
In conclusion, our study highlights the fact that differentiating and identifying subtypes of IH could be a useful predictor of PDL therapeutic efficacy. Early PDL interventions on the eyelid and perineum are suggested. Lesion colour, sites, and hypertrophic changes of PWS are relevant factors as to therapeutic outcomes. Stacked pulses with adjustable proper laser fluences in the absence of topical anaesthetics could enhance the efficacy of PDL therapy on telangiectasia removal. Small spot sizes of the laser beam to target the central arterial vessel without injuring the surrounding skin is an ideal technique for spider nevi. PDL decreases the size of CVM prior to surgical excision, which benefited the therapeutic outcome. Applying longer laser pulse durations and higher fluences of PDL on angiokeratoma of Mibelli accounted for a decreased number of treatment sessions. All these findings suggest an important clinical implication about the role of 595-nm PDL on vascular anomalies, and can be used as a useful practice guidance. It warrants further randomized controlled trials.