Conradi–Hünermann–Happle syndrome with abnormal lamellar granule contents

Background Long‐term maintenance treatment with 0·1% tacrolimus ointment for the prevention of flares has been demonstrated to be well tolerated and effective in adults for the treatment of atopic dermatitis (AD) but its impact on health‐related utility has not been reported. Objectives The purpose of this study was to estimate utility changes associated with the use of tacrolimus ointment in the maintenance treatment of adults with AD. Methods Data were collected from a clinical trial investigating long‐term maintenance treatment with 0·1% tacrolimus ointment in adults with AD. All patients were treated with twice‐daily tacrolimus ointment during an open‐label period (OLP) of up to 6 weeks, with subsequent randomization to a double‐blind disease‐control period (DCP) of 12 months comparing tacrolimus ointment, used twice weekly as maintenance treatment, vs. the emollient vehicle as standard treatment. Health‐related utility (EQ‐5D_index) was estimated by Monte Carlo simulation from SF‐12 responses by application of a published response mapping algorithm and the U.K. tariff for EQ‐5D responses and SF‐6D responses, respectively. Results Evaluable data were available for 257 patients stratified into mild, moderate or severe AD with a median age at screening of 28 years [interquartile range (IQR) 22–38] and 40% male. At screening the median EQ‐5D_index across the strata was 0·848 units (IQR 0·704–0·882) for mild cases, 0·796 (0·737–0·876) for moderate cases, and 0·760 (0·661–0·823, P < 0·001) for those with severe disease. At the end of the OLP, mean utility improvement across all strata was 0·027 [95% confidence interval (CI) −0·011 to 0·065, P = 0·165] for mild cases, 0·046 (95% CI 0·015–0·064, P = 0·002) for moderate cases and 0·076 (95% CI 0·035–0·118, P < 0·001) for those with severe disease. At the end of the blinded DCP, repeated measures analysis showed an age‐ and sex‐adjusted mean change of 0·045 units (P < 0·001) for subjects treated with tacrolimus ointment over those treated with emollient vehicle. Conclusions Patients with AD of all severities showed considerable decrements in health‐related utility. However, treatment with 0·1% tacrolimus ointment was associated with clinically significant improvement in health‐related utility for patients with moderate and severe AD, which was sustained over a 12‐month maintenance period compared with those using standard treatment with an emollient vehicle.     

Sarcoid-like paracoccidioidomycosis presenting with perineural granuloma

Paracoccidioidomycosis presenting as a sarcoid-like plaque may be misdiagnosed as leprosy, especially when shared endemic areas are concerned. We report the case of a Brazilian male patient presenting with an ulcerated plaque on his left ear and neighboring areas. The plaque simulated tuberculoid leprosy type 1 reaction, both clinically and histopathologically. A perineural granuloma with no organisms detected by routine and Fite-Faraco staining reinforced that diagnosis. Paracoccidioidomycosis was confirmed only after a second biopsy, taken from the ulcerated area.     

Clouston syndrome associated with eccrine syringofibroadenoma

Eccrine syringofibroadenoma is a rare benign neoplasia derived from acrosyryngium cells of the eccrine sudoriferous glands. It affects the extremities of elderly individuals as solitary tumors, or may also present as multiple lesions. There are controversies about the pathogenesis and differentiation of the tumor. Eccrine syringofibroadenoma has been associated with subjacent conditions, such as for example, hypohidrotic ectodermic dysplasias. The authors describe a case report of a patient with Clouston Syndrome, who presented papules and nodules in extremities, clinically and histologically compatible with eccrine syringofibroadenoma. There are only three cases described in the literature, associated with Clouston Syndrome, and this is the fourth case.     

Sweet's syndrome—therapy with cyclosporin

We report the case of a 39-year-old female patient suffering from Sweet's syndrome after an upper respiratory tract infection. Cyclosporin A at a dose of 10 mg/kg per day was given as initial treatment. Skin lesions and general malaise resolved within 9 days. The cyclosporin dose was decreased within 21 days, without recurrence of the eruption. Cyclosporin is a potent inhibitor of T lymphocytes, but affects granulocyte and monocyte functions as well. Success of treatment in our case shows that cyclosporin represents an alternative to steroid treatment in patients with Sweet's syndrome.     

Recalcitrant psoriasis vulgaris associated with Laurence–Moon–Biedl syndrome

We report a 30-year-old European (Ashkenazi Jewish) male with Laurence-Moon-Biedl syndrome (Bardet-Biedl type) who was hospitalized because of severe recalcitrant plaque-type psoriasis. Laurence-Moon-Biedl syndrome has been shown to be linked to the chromosome 11q region in the majority of the patients of European descent. The same 11q region had increased frequency of aberrations in the study that included cytogenetic analysis of 477 psoriatic patients. The animal model of the syndrome (mice) showed abnormalities in hair growth and epidermal differentiation. This genetic association between Laurence-Moon-Biedl syndrome and psoriasis can contribute to the understanding of the factors involved in the initiation of psoriasis and factors that modulate its severity and resistance to therapy.     

Suppression of Behçeťs disease with dapsone

Seven male patients with Behçe?s disease were treated with dapsone 100 mg daily. All had suppression of their pathergic reaction to a deep needle-prick, with noriceable sympromatic improvement.     

Rothmund–Thomson Syndrome with Myelodysplasia

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is caused by a DNA repair defect. It is characterized mainly by skin, eye, and skeletal abnormalities. Cutaneous changes appear at between 3 and 6 months of age and include poikiloderma, photosensitivity, scaling, hyperkeratosis, and disturbance of hair growth. Other abnormalities include cataracts, congenital bone defects, soft tissue contractures, and osteogenesis imperfecta. Various malignancies have been reported in association with RTS, including osteosarcoma, fibrosarcoma, and nonmelanoma skin cancers. The myelodysplastic syndromes are a group of hematologic disorders defined by morphologic abnormalities of the three cell lines. The pathogenesis of myelodysplasia is a multistep process that begins with a somatic mutation in the pluripotential stem cell, which is irreversibly altered and acquires a survival advantage. Myelodysplasia in the young and RTS are both rare conditions. We report a patient with RTS and myelodysplasia. This is the second reported case of an association between these two conditions, which are both likely to be due to a common etiologic cause of nonrepair of stem cell DNA damage. Clinicians should be aware of the potential of this complication arising in patients with RTS.     

Rubinstein–Taybi syndrome with piebaldism

A young girl is reported suffering from multiple congenital anomalies typical of Rubinstein–Taybi syndrome, in association with cutaneous lesions of piebaldism and occipital poliosis. Clinical characteristics of both entities are described and cutaneous manifestations of Rubinstein–Taybi syndrome are reviewed. To the best of our knowledge, this is the first case reporting such an association.     

False “Highlighting” with Wood’s Lamp

Abstract: Wood's lamp evaluation is used to diagnose pigmentary disorders. For example, vitiligio typically demonstrates lesional enhancement under Wood's lamp evaluation. Numerous false positive enhancing lesions can be noted in the skin. We describe a 5‐year‐old Hispanic boy who had painted his face with highlighter, producing enhancing lesions under Wood's lamp. Physicians who use Wood's lamp should be aware that the appearance of markers and highlighter can mimic that of true clinical illnesses.