Case for diagnosis. A bluish nodule on the scalp

A 32-year-old man was seen due to a 24-month history of an asymptomatic nodular lesion in the left parietal region. Physical examination revealed a smoothly bluish elevated nodule of 1.5cm x 1cm. He reported no preceding history of trauma. Dermoscopy revealed a homogeneous blue pattern (Figure 1). The tumor was surgically excised and sent for dermatopathological study. Histological examination showed a circumscribed dermal tumor without epidermal attachmen

SkIndia Quiz 38: Subcutaneous thumb tumor

International audience(CE 16 janv. 2008, req. n° 296528, Sté Leroy-Merlin, AJDA 2008. 119 ; CAA Douai, 5 juill. 2007, n° 06DA01594, SARL de la Roche et SCI Les jardins d'Etalondes, AJDA 2007. 1947, et concl. J. Lepers, AJDA 2008. 154

Severe gastrointestinal involvement in adult-onset Henoch–Schönlein purpura associated with clarithromycin-resistant Helicobacter pylori infection

Background: Henoch–Schönlein purpura (HSP) is an uncommon vasculitis in adults. Gastrointestinal involvement is part of the classical tetrad and can present as bleeding. Helicobacter pylori infection in the setting of HSP has been reported a few times in the literature and may be involved in the pathogenesis of this disease as a triggering agent. Case report: A 48-year-old man presented to the emergency department with 9 days of acute symmetric additive polyarthritis, 2 days of palpable purpura involving lower limbs, recent-onset intense mesogastric pain and hematochezia. H. pylori was detected in gastric tissue and triple therapy (clarithromycin, amoxicillin and omeprazole) was started. Gastrointestinal bleeding and other symptoms stopped 24 h after steroid initiation and he was later discharged on prednisone (1 mg/kg) and azathioprine (100 mg/day). Shortly after discharge he was readmitted with hematochezia and clarithromycin-resistant H. pylori infection was suspected. Bleeding stopped following reinstitution of corticosteroids and a second-line scheme (levofloxacin, amoxicillin and omeprazole) was introduced. Corticosteroids were gradually tapered and he remained on azathioprine. Nine months later he was doing fine. The pertinent literature is briefly discussed, highlighting the previous cases of concurrent diagnosis in adult patients. Conclusion: To the best of our knowledge, this is the first report describing resistance to clarithromycin-containing triple therapy in a H. pylori-infected adult patient with HSP. Gastrointestinal bleeding remains one of the most feared manifestations of HSP. These patients may benefit from H. pylori screening, as this might positively affect their prognosis. Further studies in adults are nevertheless needed to clarify this association and its therapeutic impact

Rothmund-Thomson Syndrome: A 13-Year Follow-Up

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones and eyes and, in type II RTS, presenting an increased risk for malignancy. With about 300 cases reported so far, we present a 13-year follow-up including clinical images, X-rays and genetic analysis. A 13-month-old female started with a facial rash with blisters on her cheeks and limbs at the age of 3 months along with congenital hypoplastic thumbs, frontal bossing and fine hair, eyebrows and eyelashes. The patient was lost to follow-up and returned 12 years later with palmoplantar hyperkeratotic lesions, short stature, disseminated poikiloderma and sparse scalp hair, with absence of eyelashes and eyebrows. Radiographic analysis showed radial ray defect, absence of the thumb and three wrist carpal bones, and reduced bone density. Gene sequencing for the RECQL4 helicase gene revealed a mutation on each allele. RTS is a rare disease, and in this patient we observed the evolution of her skin lesions and other clinical features, which were important for the classification of type II RTS. The next years will provide even more information on this rare disease

Cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome

Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications