Pinho AC, Gouveia MJ, Gameiro AR
… +2 more, Cardoso JC, Gonçalo MM
J Dermatol Case Rep
· 2015 Sep · PMID 26512302
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BACKGROUND: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypi...BACKGROUND: Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis. MAIN OBSERVATIONS: Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband. CONCLUSIONS: BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor".
Zampeli VA, Lippert U, Nikolakis G
… +4 more, Makrantonaki E, Tzellos TG, Krause U, Zouboulis CC
J Dermatol Case Rep
· 2015 Sep · PMID 26512301
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BACKGROUND: Pyoderma gangraenosum is an immune-mediated, inflammatory, neutrophilic dermatosis of unknown etiology, which represents one of the extraintestinal manifestations of inflammatory bowel disease. It is a rare d...BACKGROUND: Pyoderma gangraenosum is an immune-mediated, inflammatory, neutrophilic dermatosis of unknown etiology, which represents one of the extraintestinal manifestations of inflammatory bowel disease. It is a rare disease that occurs in less than 1% of patients with inflammatory bowel disease and with the same ratio in patients with Crohn's disease and ulcerative colitis. MAIN OBSERVATIONS: A 36-year-old woman was diagnosed with ulcerative colitis 6 years before admission to our dermatology department with an acute disseminated pyoderma gangraenosum with mucosal involvement, during a flare of ulcerative colitis. Disease progression was interrupted by intravenous administration of the tumor necrosis factor-α inhibitor infliximab at 5 mg/kg at weeks 0, 2, and 6 (1st cycle) and every 8 weeks thereafter. Improvement of intestinal, skin and oral manifestations was evident already after the 1st cycle of treatment and has been maintained since (at least 16 months). CONCLUSIONS: This case report is one of very few on disseminated pyoderma gangraenosum with oral involvement complicating ulcerative colitis, where infliximab was shown to have a rapid efficacy on skin, mucosal and bowel symptoms.
Nygaard U, Dalager S, Spaun E
… +1 more, Hedelund L
J Dermatol Case Rep
· 2015 Sep · PMID 26512300
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BACKGROUND: Eccrine angiomatous hamartoma is a rare benign cutaneous malformation with a diverse clinical appearance, therefore likely to be misdiagnosed and underreported. MAIN OBSERVATIONS: A 44-year-old man presented...BACKGROUND: Eccrine angiomatous hamartoma is a rare benign cutaneous malformation with a diverse clinical appearance, therefore likely to be misdiagnosed and underreported. MAIN OBSERVATIONS: A 44-year-old man presented with a congenital erythematous hyperhidrotic plaque on the left upper back measuring 18 x 25 cm. No pain or tenderness nor hypertrichosis were observed. Histopathology was consistent with the mucinous variant of eccrine angiomatous hamartoma. Intralesional injection of botulinum toxin type A greatly reduced localized sweating, improving patient quality of life. CONCLUSIONS: This article describes a novel clinical presentation of eccrine angiomatous hamartoma: large, erythematous, and slightly indurated plaque localized on the upper back. It emphasizes the role of histopathology in the diagnostic process and botulinum toxin as a viable treatment option.
Park KY, Hyun MY, Yeo IK
… +2 more, Seo SJ, Hong CK
J Dermatol Case Rep
· 2015 Jun · PMID 26236416
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We report a case with an unusual manifestation of bullous pemphigoid (BP) in a 57-year-old woman. She presented with a one-month history of pruritus and multiple annular patches with central regression on her trunk and e...We report a case with an unusual manifestation of bullous pemphigoid (BP) in a 57-year-old woman. She presented with a one-month history of pruritus and multiple annular patches with central regression on her trunk and extremities and there were no signs of corresponding internal malignancy. Eosinophilic spongiosis was observed in histopathologic examination and direct immunofluorescence studies revealed a strong linear staining pattern of the basement membrane zone with C3 and IgG. This unusual case indicates that a lack of blisters does not necessarily exclude a diagnosis of BP, and supports previous reports suggesting gyrate erythema can be an initial manifestation of bullous disease.
Tanaka R, Inagawa K, Kanomata N
… +2 more, Hata J, Fujimoto W
J Dermatol Case Rep
· 2015 Jun · PMID 26236415
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Dermatofibrosarcoma protuberans (DFSP) in children is often clinically misdiagnosed as hemangioma or vascular malformation. Ultrasonography and color Doppler imaging are useful noninvasive tools for the diagnosis of skin...Dermatofibrosarcoma protuberans (DFSP) in children is often clinically misdiagnosed as hemangioma or vascular malformation. Ultrasonography and color Doppler imaging are useful noninvasive tools for the diagnosis of skin tumors and may help distinguish DFSP from other vascular skin lesions in children.
De Leonibus C, Lembo C, Santantonio A
… +6 more, Fioretti T, Rojo S, Salvatore F, De Vivo M, Esposito G, Giliberti P
J Dermatol Case Rep
· 2015 Jun · PMID 26236414
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Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene fo...Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy.
J Dermatol Case Rep
· 2015 Jun · PMID 26236413
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BACKGROUND: Erlotinib is a targeted anti-cancer drug which acts through the inhibition of epidermal growth factor receptor (EGFR). MAIN OBSERVATIONS: A 79-year-old developed bilateral ectropion after he received erlotini...BACKGROUND: Erlotinib is a targeted anti-cancer drug which acts through the inhibition of epidermal growth factor receptor (EGFR). MAIN OBSERVATIONS: A 79-year-old developed bilateral ectropion after he received erlotinib treatment for lung adenocarcinoma. The ectropion completely resolved with symptomatic treatment without any modification in erlotinib therapy. CONCLUSIONS: EGFR inhibitors are frequently associated with a variety of mucocutaneous adverse events. Ocular toxicity associated with these agents has been reported rarely. We present this case to underline the importance of recognition of newly reported cutaneous and ocular adverse events of targeted therapies.
Akhyani M, Hatami P, Yadegarfar Z
… +1 more, Ghanadan A
J Dermatol Case Rep
· 2015 Jun · PMID 26236412
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BACKGROUND: Colloid milium is a rare cutaneous deposition disorder characterized by translucent papules developing on sun-exposed regions such as the face, neck and dorsal aspects of the hands and back. Exogenous ochrono...BACKGROUND: Colloid milium is a rare cutaneous deposition disorder characterized by translucent papules developing on sun-exposed regions such as the face, neck and dorsal aspects of the hands and back. Exogenous ochronosis is caused by the accumulation of homogentisic acid resulting from long-term application of certain topical agents. Histology is characterized by yellow-brown pigment deposits in the papillary dermis. Prolonged use of hydroquinone may result in the development of the pigmented form of colloid milium, sometimes in association with ochronosis. CASE REPORT: A 53-year-old man presented with a 3-year history of multiple slow spreading pigmented papules on the dorsa of his hands, nose and ears. The patient had a long history of exposure to sun and fertilizers with no history of using hydroquinone bleaching creams. A later biopsy revealed the diagnosis of pigmented colloid milium associated with exogenous ochronosis. CONCLUSION: UV light damage and long contact with fertilizers may have a role in the development of pigmented colloid milium associated with exogenous ochronosis.
J Dermatol Case Rep
· 2015 Jun · PMID 26236411
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BACKGROUND: Dermatofibromas are common benign skin neoplasms. MAIN OBSERVATIONS: The authors report the clinical, dermoscopic and histopathological features of a hemosiderotic dermatofibroma mimicking melanoma in an 85-y...BACKGROUND: Dermatofibromas are common benign skin neoplasms. MAIN OBSERVATIONS: The authors report the clinical, dermoscopic and histopathological features of a hemosiderotic dermatofibroma mimicking melanoma in an 85-year-old woman. CONCLUSIONS: Atypical dermoscopic patterns may prove difficult to differentiate from melanocytic lesions, and because of its polymorphic, melanoma-like presentation, definite diagnosis of hemosiderotic dermatofibroma can be reached by histopathological examination.
J Dermatol Case Rep
· 2015 Jun · PMID 26236410
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BACKGROUND: Temporary black henna tattooing is highly popular among children and young adults in some regions. The unmonitored addition of different products to darken the color of pure henna has been the cause of many t...BACKGROUND: Temporary black henna tattooing is highly popular among children and young adults in some regions. The unmonitored addition of different products to darken the color of pure henna has been the cause of many tattoo-associated dermatoses. OBSERVATION: Hypertrichosis secondary to henna pseudotattoo is a rare, newly recognized cutaneous manifestation. Only 4 case reports of henna tattooing causing localized hypertrichosis have been reported in the literature. We report a case of hypertrichosis and eczematous reaction to temporary henna tattoo. CONCLUSION: Hypertrichosis secondary to black henna is independent of the presence of contact dermatitis. The mechanism by which black henna induces hair growth remains unclear.
Costa C, Scalvenzi M, Ayala F
… +2 more, Fabbrocini G, Monfrecola G
J Dermatol Case Rep
· 2015 Jun · PMID 26236409
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Actinic keratosis (AKs) is one of the most common skin lesions leading to an increased risk of developing squamous cell carcinoma and other skin malignancies. The lesions principally arise as a result of excessive ultrav...Actinic keratosis (AKs) is one of the most common skin lesions leading to an increased risk of developing squamous cell carcinoma and other skin malignancies. The lesions principally arise as a result of excessive ultraviolet (UV) exposure. AKs may regress spontaneously, remain stable or evolve to invasive squamous cell carcinoma. The risk of squamous cell carcinoma is significantly increased patients with more than 5 AKs. The main mechanisms involved in the formation of AK are inflammation, mutagenesis, oxidative stress, impaired apoptosis, immunosuppression, disregulation of cell growth and proliferation, and tissue remodeling. Human papilloma virus has also been correlated with the formation of some AKs. As an individual ages, his skin is exposed to increasing cumulative amounts of UV light and other environmental insults. This is especially true for the head, neck and forearms. These insults do not target only the skin where individual lesions develop, but also the surrounding area. In this area undetectable preclinical AK lesions or dysplastic cells may be present. The whole affected area is known as the 'field'. Therefore, management is divided into lesion-directed and field-directed therapies. Currently, the therapies in use are lesion-directed cryotherapy and/or excision, and field-directed topical agents: 5-fluorouracil, diclofenac, photodynamic therapy, imiquimod, and ingenol mebutate. Combining lesion- and field-directed therapies showed good results and several novel therapies are under investigation. Treatment is variable and personalized, what makes a gold standard management algorithm difficult to design. This review aims to describe the rationale behind the available treatment options for AKs based on current understanding of pathophysiology and epidemiology.
Kneitz H, Motschenbacher S, Wobser M
… +1 more, Goebeler M
J Dermatol Case Rep
· 2015 Mar · PMID 25932062
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A 90-year-old patient presented with a large cutaneous horn (cornu cutaneum) of nine-year duration arising at her right cheek. The lesion was removed by surgery. Histology was reported as cornu cutaneum with a well-diffe...A 90-year-old patient presented with a large cutaneous horn (cornu cutaneum) of nine-year duration arising at her right cheek. The lesion was removed by surgery. Histology was reported as cornu cutaneum with a well-differentiated squamous cell carcinoma at its base. Cutaneous horn is morphological designation for protuberant mass of keratin that resembles the horn of an animal. Such lesions appear on sun-exposed skin areas like upper parts of the face and ears in elderly patients. Large cutaneous horns (> 1 cm) tend to be more commonly associated with squamous cell carcinoma compared to smaller cutaneous horns, particularly when present on the face.
Batalla A, Encinas-Muñiz AI, Gutiérrez-González E
… +1 more, de la Mano D
J Dermatol Case Rep
· 2015 Mar · PMID 25932061
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The vermilion and vermilion border are rare locations for basal cell carcinoma. We report a case of a 72-year-old woman, who presented with an asymptomatic erosive lesion on the vermilion area of the upper lip. Histopath...The vermilion and vermilion border are rare locations for basal cell carcinoma. We report a case of a 72-year-old woman, who presented with an asymptomatic erosive lesion on the vermilion area of the upper lip. Histopathology examination was consistent with basal cell carcinoma. We suggest that basal cell carcinoma should be included in the differential diagnosis of erosive/ulcerative lesions arising on the vermilion area of the lip.
Garrido Colmenero C, Arias Santiago S, Blasco Morente G
… +2 more, Pérez López I, Aneiros Fernández J
J Dermatol Case Rep
· 2015 Mar · PMID 25932060
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Psoriasis and bullous pemphigoid represent two clinically well-characterized, chronic, inflammatory skin conditions. The concomitant occurrence of these two entities in a patient is rare. We report a 62-year-old male wit...Psoriasis and bullous pemphigoid represent two clinically well-characterized, chronic, inflammatory skin conditions. The concomitant occurrence of these two entities in a patient is rare. We report a 62-year-old male with personal history of psoriasis vulgaris who developed disseminated bullous pemphigoid associated with psoriatic erythroderma. Skin histopathology from a scaly plaque was consistent with the diagnosis of psoriasis and showed subepidermal blister with inflammatory infiltrate of eosinophils with some neutrophils.
Esquivel-Pedraza L, Fernández-Cuevas L, Saeb-Lima M
… +3 more, Guerrero-Ramos BA, Hernández-Salazar A, Méndez-Flores S
J Dermatol Case Rep
· 2015 Mar · PMID 25932059
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BACKGROUND: Squamous cell papilloma is a benign mucosal disease associated with human papillomavirus. Its presence in human immunodeficiency virus (HIV)-infected patients has rarely been reported. Therapeutic modalities...BACKGROUND: Squamous cell papilloma is a benign mucosal disease associated with human papillomavirus. Its presence in human immunodeficiency virus (HIV)-infected patients has rarely been reported. Therapeutic modalities for oral squamous cell papilloma have limited success and recurrences are frequent in HIV-infected subjects. Imiquimod, is a topical immunomodulator successfully used in some human papillomavirus-related oral lesions. However, its use for oral squamous cell papillomas in HIV-infected individuals has never been described. OBSERVATIONS: We report two male adult patients with HIV-infection, B2 and C3 stage respectively, undergoing antiretroviral therapy, with multiple recalcitrant oral squamous cell papillomas, predominantly affecting the masticatory mucosa. These lesions were successfully treated with daily topical imiquimod 5% cream for a few weeks, with only mild and well-tolerated side effects. No recurrences were observed after a follow-up period of over 20 months. CONCLUSIONS: Our cases highlight the value of imiquimod for the non-invasive treatment of multiple persistent oral squamous cell papillomas in two HIV-infected patients.
J Dermatol Case Rep
· 2015 Mar · PMID 25932058
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BACKGROUND: Primary cutaneous γ/δ T-cell lymphoma is a rare variant of peripheral T-cell lymphoma which has been only recently set apart from subcutaneous panniculitis-like T-cell lymphoma and is known for its aggressive...BACKGROUND: Primary cutaneous γ/δ T-cell lymphoma is a rare variant of peripheral T-cell lymphoma which has been only recently set apart from subcutaneous panniculitis-like T-cell lymphoma and is known for its aggressive nature. MAIN OBSERVATION: We hereby report a case of primary cutaneous γ/δ T-cell lymphoma in a 35-year-old man with bone marrow granulomas, an unexpected feature in this lymphoma. The patient was treated with combination chemotherapy. Partial response was obtained, followed by relapse. Allogeneic stem cell transplantation was then carried out, and full remission was achieved. CONCLUSION: Bone marrow granulomas can be an accompanying feature in primary cutaneous γ/δ T-cell lymphoma.
Bulur I, Keseroglu HO, Saracoglu ZN
… +1 more, Gönül M
J Dermatol Case Rep
· 2015 Mar · PMID 25932057
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BACKGROUND: Symmetrical drug related intertriginous and flexural exanthema (SDRIFE or Baboon syndrome) is a symmetrical contact dermatitis on inverse regions of the body. The disorder is easily differentiated from other...BACKGROUND: Symmetrical drug related intertriginous and flexural exanthema (SDRIFE or Baboon syndrome) is a symmetrical contact dermatitis on inverse regions of the body. The disorder is easily differentiated from other drug eruptions by its typical appearance and lack of other concurrent findings. OBSERVATION: A 50-year-old male patient presented to our clinic complaining of a rash that had developed two days after the tenth infliximab infusion for psoriasis and reoccurred after consecutive infusions. The physical examination revealed a bilateral intergluteal, inguinal, abdominal, axillary, antecubital and neck region macular erythematous rash. There were no other systemic findings. The laboratory values were within normal range. The patient was diagnosed with symmetrical drug-related intertriginous and flexural exanthema associated with infliximab treatment based on dermatological findings, histopathology and the results of the provocation test. The lesions resolved permanently after the patient was swiched from infliximab to adalimumab. CONCLUSION: Various cutaneous adverse events of anti-tumor necrosis factor alpha treatment have already been reported. The increased use of these agents can lead to a wider variety of drug-induced skin lesions, such as the reported Baboon syndrome.
Galluzzo M, Talamonti M, Di Stefani A
… +1 more, Chimenti S
J Dermatol Case Rep
· 2015 Mar · PMID 25932056
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BACKGROUND: Some studies suggest that the nervous system plays a role in the onset of psoriasis and psoriasis flares including the symmetry of lesions, sparing of denervated skin and the role of stress in inducing lesion...BACKGROUND: Some studies suggest that the nervous system plays a role in the onset of psoriasis and psoriasis flares including the symmetry of lesions, sparing of denervated skin and the role of stress in inducing lesions. MAIN OBSERVATIONS: We describe an unusual case of psoriasis occurring in the same distribution as sciatic pain from a prolapsed intervertebral disc. The patient, a 45-year-old man with plaque psoriasis was treated with ustekinumab for 104 weeks, at a standard dose. During the eight month of therapy he developed an asymptomatic linear eruption on the left lower extremity along the distribution of the sciatic nerve. On examination, erythematous scaly plaques were noted. Histopathology confirmed the diagnosis of psoriasis. The treatment was continued and clobetasol proprionate 0.05% cream was added. At week 12 after the eruption, the patient reported a pain radiating through the buttock and posterior left leg during jogging. Magnetic resonance imaging showed lumbar disc herniation with compression of the L5-S1 spinal nerve roots. The patient stopped running and the psoriasis spontaneously receded, in a slow but complete fashion, without any local treatment. CONCLUSION: There is substantial evidence that nerves play a key role in the pathogenesis of psoriasis. We hypothesized that local TNF-alpha, neuropeptides and nerve growth factor, which are produced by nerve root compression, played a critical role in this case of psoriasis onset in an area of pain from a bulging lumbar intervertebral disc. To our knowledge, a correlation of psoriasis and nerve root compression has not been described previously.
Rakowska A, Zadurska M, Czuwara J
… +5 more, Warszawik-Hendzel O, Kurzeja M, Maj M, Olszewska M, Rudnicka L
J Dermatol Case Rep
· 2015 Mar · PMID 25932055
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BACKGROUND: Loose anagen hair syndrome (LAHS) is typically diagnosed in girls older than 2 years who present with hair that "will not grow". Hair microscopic examination shows absent inner and outer root sheaths, rufflin...BACKGROUND: Loose anagen hair syndrome (LAHS) is typically diagnosed in girls older than 2 years who present with hair that "will not grow". Hair microscopic examination shows absent inner and outer root sheaths, ruffling of the cuticle on the proximal hair shaft and deformed pigmented anagen bulbs. OBJECTIVE: The aim of the study was to assess whether there are characteristic trichoscopic features favoring the diagnosis of LAHS. PATIENTS AND METHODS: Eighty nine children patients were included into the study (24 girls with LAHS, 25 with alopecia areata, 20 with telogen effluvium and 20 healthy children). In all groups trichoscopy was performed. Trichoscopy images were analyzed for abnormalities in the hairs shafts, the hair follicle openings and the interfollicular area. RESULTS: Dirty dots were present in all groups. A unique feature of LAHS was the presence of rectangular black granular structures which differs from dense black dots seen in patients with alopecia areata. This feature was observed in 71% of patients with LAHS. Follicular units with single hairs constituted 92,9% of hair units in these patients (65,5% in telogen effluvium and 53% in the control group). Solitary yellow dots were found in 50% of patient with LAHS and in 24% of patients with alopecia areata, but was not found in control group or in patients with telogen effluvium. CONCLUSION: The trichoscopy features favoring the diagnosis of LAHS are: rectangular black granular structures, solitary yellow dots and major predominance of follicular units with single hairs.
J Dermatol Case Rep
· 2014 Dec · PMID 25621094
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Anhidrosis is a failure in sweat production in response to physiological thermal or chemical stimuli. Acquired idiopathic generalized anhidrosis is a rare disorder without sweat gland pathology and without neurologic sym...Anhidrosis is a failure in sweat production in response to physiological thermal or chemical stimuli. Acquired idiopathic generalized anhidrosis is a rare disorder without sweat gland pathology and without neurologic symptoms. Most cases have been reported from Far East. We report a case of a 58-year-old Caucasian male who suffered from heat intolerance, heat-induced cutaneous burning and failed to sweat even in sauna for five years. A skin biopsy disclosed no pathologies. He had no neurologic disorders. The diagnosis of acquired idiopathic generalized anhidrosis was confirmed and treatment with methylprednisolone initiated. This led to improvement of heat tolerance, remission of burning and partial remission of sweating.