Homozygous Loss of CDKN2 in Primary Cutaneous CD8(+) Lymphoma NOS.

ABSTRACT: Primary cutaneous acral CD8(+) lymphoma (AL) has been accepted as primary cutaneous acral CD8-positive T-cell lymphoproliferative disorder in the revised WHO and updated WHO-EORTC lymphoma classifications. Commonly arising on the ears and comprising a clonal cytotoxic CD8 + T-cell infiltrate, almost all cases follow an indolent clinical course. A single aggressive case reported in the literature had a deletion at the CDKN2 locus at 9p21. We report an atypical CD8 + T-cell proliferation arising on the chest of an elderly man who had some similarities to AL but with a very high proliferation rate, absent p16 protein expression, and homozygous loss of the CDKN2 locus using FISH analysis. A diagnosis of peripheral T-cell lymphoma not otherwise specified (PTCL NOS) was preferred. Analyses of 4 cases of AL demonstrated often low p16 protein expression but intact CDKN2 loci. This case raises the problems of the boundaries between AL and PTCL NOS, and a possible role in the loss of p16 function in pathogenesis.

Epidermolysis bullosa aquisita following immune-checkpoint inhibitor treatment for metastatic melanoma.

A case of epidermolysis bullosa aquisita following immunotherapy for melanoma. This adds to the repertoire of subepidermal blistering disorders documented following immune checkpoint therapy.

Gamer's nodulesBRIEF REPORT.

A 15-year-old boy presented with a two-year history of subcutaneous nodules on his feet that were painful on palpation and with footwear. The patient is an avid gamer, and his mother had noted a distinct sitting position as he sat playing his console. Skin biopsy showed features of a collagenoma, consistent with previous reports of repetitive pressure lesions associated with various sports and religious practices. It is important to be aware of these "gamer's nodules" that result from prolonged periods of fixed seating postures.

Tiger-like mycosis fungoides: an unusual clinical presentation of a rare variant of mycosis fungoides.

Mycosis fungoides (MF) is the most common type of cutaneous T-cell lymphoma. Mycosis fungoides classically presents in the skin as patches, plaques, tumors, or erythroderma, progressing to involve the lymph nodes and peripheral blood. The many clinical variants, with different histologic patterns, and the subtle early clinical and histologic changes may delay early diagnosis and present a diagnostic challenge for clinicians. The greatest challenge in diagnosis is the pre-mycotic stage, which may closely resemble eczematous or psoriasiform dermatitis clinically and histologically. The persistence of lesions and inadequate response to treatment are the first warning signs. Later stages of MF have a poor prognosis with poor therapeutic response and fatal outcome. We describe a 72-year-old man, who presented with a two-year history of an unusual eruption, which started on the abdomen, around the waistline, and gradually spread to involve his back, trunk, and buttocks. Clinically, the skin eruption presented as tiger-like stripes. The diagnosis was confirmed after histopathologic examination. The patient was treated with NB-UVB phototherapy with marked improvement.

Poikilodermatous plaque-like hemangioma: Case series of a newly defined entity.

BACKGROUND: We present a distinctive type of acquired vascular proliferation, for which we propose the name of poikilodermatous plaque-like hemangioma. OBJECTIVE: The aim of this study was to summarize the clinical and histopathologic features in a case series of poikilodermatous plaque-like hemangioma. METHODS: Sixteen cases were identified from the routine clinical and referral practices of the authors. Clinical characteristics, including demographic details and clinical morphology, were collated. The salient histopathologic features, including immunohistochemical staining results, were summarized. RESULTS: The lesions were usually solitary erythematous-to-violaceous poikilodermatous plaques on the lower extremities and pelvic girdle, with an indolent clinical course. Mean age of affected patients was 72 (range 58-80) years, and there was a male predominance. Histology comprised a distinctive band-like proliferation of vascular channels suggestive of postcapillary venules within the superficial dermis with a background of fibrosis, edema, and loss of elastic fibers. Despite the clinical atrophic appearance, acanthosis was a frequent finding. LIMITATIONS: Retrospective study. CONCLUSION: Poikilodermatous plaque-like hemangioma is a distinctive and previously undescribed vascular proliferation defined by a constellation of consistent and reproducible clinical and histologic features.

Acquired Ulcero-Mutilating Bilateral Acro-Osteopathy (Bureau-Barrière Syndrome).

We present a 35-year-old male patient with Bureau-Barrière syndrome. Bureau-Barrière syndrome is an ulcero-mutilating acropathy almost invariably associated with excessive alcohol intake. It presents with a triad of trophic skin changes with recurrent ulcerations, bone lesions and nerve damage. The clinical presentation includes chronic painless plantar ulcerations with periulcerous hyperkeratosis, hyperhidrosis, livedoid skin colour, nail dystrophy, widening and infiltration of the toes and common interdigital mycoses. Other non-specific skin changes related to the alcohol consumption are commonly observed as well. The condition affects mainly middle-aged men suffering from alcoholism. Often a bilateral location at the lower limb of male alcoholics has been described, as in our patient. Successful treatment of the Bureau-Barrière syndrome requires an interdisciplinary approach. Cessation of alcohol intake and smoking is of paramount importance.

Hyperhidrosis, bromhidrosis, and chromhidrosis: Fold (intertriginous) dermatoses.

Human sweat glands disorders are common and can have a significant impact on the quality of life and on professional, social, and emotional burdens. It is of paramount importance to diagnose and treat them properly to ensure optimal patient care. Hyperhidrosis is characterized by increased sweat secretion, which can be idiopathic or secondary to other systemic conditions. Numerous therapeutic options have been introduced with variable success. Novel methods with microwave-based and ultrasound devices have been developed and are currently tested in comparison to the conventional approaches. All treatment options for hyperhidrosis require frequent monitoring by a dermatologist for evaluation of the therapeutic progress. Bromhidrosis and chromhidrosis are rare disorders but are still equally disabling as hyperhidrosis. Bromhidrosis occurs secondary to excessive secretion from either apocrine or eccrine glands that become malodorous on bacterial breakdown. The condition is further aggravated by poor hygiene or underlying disorders promoting bacterial overgrowth, including diabetes, intertrigo, erythrasma, and obesity. Chromhidrosis is a rare dermatologic disorder characterized by secretion of colored sweat with a predilection for the axillary area and the face. Treatment is challenging in that the condition usually recurs after discontinuation of therapy and persists until the age-related regression of the sweat glands.

Hemangioma Activity and Severity Index (HASI), an instrument for evaluating infantile hemangioma: development and preliminary validation.

BACKGROUND: Infantile hemangiomas (IHs) are the most common benign vascular tumors of infancy. Their evaluation is important and requires the use of a unified scoring system. OBJECTIVES: We designed a novel scoring index, the Hemangioma Activity and Severity Index (HASI), for the clinical evaluation of IHs. The purpose of this pilot study was to validate the HASI. METHODS: The HASI was evaluated for validity by an external panel of experts. The reliability study included 59 children with superficial and mixed hemangiomas. Patients attended an assessment visit and a subsequent visit three days later for a second scoring. They were then followed up monthly for six months and scored at each visit by two investigators separately. RESULTS: Interclass correlation coefficients (ICCs) for inter-rater reliability were 0.82 (95% confidence interval [CI] 0.75-0.88) for IH activity and 0.94 (95% CI 0.91-0.96) for IH severity. Intra-rater reliability was high, with negligible mean differences of 0.3 and 0.4 points between the two ratings. The average time required to complete the scoring was 2.5 minutes. CONCLUSIONS: Our preliminary studies on the HASI show promising results in terms of its clinical utility and applicability in practice. It could be used by physicians as an objective instrument for the scoring of IHs.

Clinicopathologic features and survival in Spitzoid malignant melanoma and conventional malignant melanoma.

BACKGROUND: Although recent advances in genetics have revealed distinct mutational profiles and molecular signaling pathways associated with Spitzoid malignant melanoma (SMM), less is known about the clinicopathologic characteristics and behavior of SMM compared with conventional melanoma. OBJECTIVE: We sought to determine the clinicopathologic characteristics and mortality risk associated with SMM and conventional malignant melanoma. METHODS: We conducted a retrospective study of 30 patients with SMM and 30 patients with conventional melanoma. The two groups were matched by age, gender, and depth of tumor invasion. Additional patient- and tumor-level characteristics were compared between groups and regression modeling was used to assess relative mortality risk. RESULTS: Unadjusted analyses of SMM and conventional malignant melanoma revealed no significant differences in clinical impression, anatomic location, mitotic rate, and presence of ulceration. Sentinel lymph node biopsy, completion lymphadenectomy, and visceral metastases did not differ between groups. Cox proportional hazards regression showed no differences in mortality between Spitzoid and conventional melanoma. LIMITATIONS: Small sample size, short follow-up duration, and residual confounding may limit the accuracy and generalizability of our results. CONCLUSIONS: SMM and conventional malignant melanoma differ in some clinicopathologic features. We did not find a statistically significant difference in mortality between the two.

Aquagenic keratoderma. Two new case reports and a new hypothesis.

Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water. We present two new cases with aquagenic palmoplantar acrokeratoderma - a child and a young male. A significant clinical improvement was achieved after topical treatment with aluminum salts. Aquagenic palmar keratoderma may be a clue to cystic fibrosis in adolescents and young adults. We developed a new hypothesis on its pathogenesis.

Anorectal malignant melanoma in a hemorrhoidal nodule: a diagnostic and therapeutic problem.

Anorectal malignant melanoma (ARMM) is an extremely rare condition, often misdiagnosed and mistreated until development of metastatic disease. Clinical presentation mimicking hemorrhoids is a well-known pitfall. We present a male patient with hemorrhoidal nodules who was referred to the policlinic of dermatology for management of anal pruritus. A dark macule was detected over one of the hemorrhoidal nodules histologically verified as melanoma. Subsequent CT and PET/CT showed lymph nodes involvement and the patient underwent wide local excision (WSE) followed by abdominoperineal resection (APR). The rarity of ARMM does not allow for establishment of a validated staging system, placebo-controlled treatment trials and management guidelines adoption. The current treatment for the condition is surgical excision, using different techniques according to the stage of the disease and depth of invasion. The prognosis and overall survival are poor, but recent genetic studies give promising results for molecular targeting. Awareness for this disease is indispensable, as early recognition could result in improved survival and quality of life.

Tinea atypica: report of nine cases.

Fungal infections of the skin are a common condition, usually easy to diagnose and treat. When the infection is clinically mimicking another cutaneous disorder or when the clinical presentation is modified by the use of inappropriate treatment, it is referred to as tinea atypica or tinea incognito.We report a series of nine cases of patients with tinea atypica, imitating and diagnosed initially as different skin diseases. Two patients were defined as pyoderma in the facial and pubic regions (caused respectively by Trichophyton mentagrophytes var. mentagrophytes and Microsporum canis) and one as herpes zoster ophthalmicus (caused by Trichophyton rubrum). Six additional patients were initially misdiagnosed: (1) Plaque-like formation of the skin misdiagnosed as an impetiginized eczema (with isolated agent Trichophyton verrucosum). (2) A rare form of skin infection of the hand caused by T. rubrum, imitating clinically cutaneous infection with tuberculum mulgentium. (3) Rosacea-like dermatitis with an isolated agent Fusarium. (4) A patient with the typical clinical symptoms of seborrheic dermatitis of the face (and with isolated T. rubrum as a causative agent). (5) Another patient presented with a widespread folliculitis by Trichophyton mentagrophytes. (6) In a patient with bullous pemphigoid and immunosuppression pemphigoid-like eruptions were caused by Malassezia pachydermatis and T. rubrum. The diagnosis in the presented cases was based on direct microscopic examination with KOH and a culture on Sabouraud agar.After the diagnosis of tinea, treatment with topical and systemic antifungal agents was administrated, followed by complete clinical remissions in all cases.The clinical manifestations of tinea atypica can mimic a large number of other dermatoses, which often leads to misdiagnosing, and as a consequence--to serious difficulties in the management of clinical symptoms and in offering appropriate therapy.

Erosive pustular dermatosis (chronic atrophic dermatosis of the scalp and extremities).

Erosive pustular dermatosis is a rare noninfectious disease of the scalp or legs. Clinical findings are nonspecific, with crusts, atrophy, and pustules. A later complication of erosive pustular dermatosis is secondary cicatrical alopecia. The list of possible differential diagnoses is long, and includes infectious, inflammatory, and neoplastic dermatoses. Treatment is challenging. Topical drug therapy may improve the condition, but rarely results in a complete resolution. Surgery has been linked to exacerbation in some patients. In our hands, it achieved complete remission in male patients.