1/19. Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.We have identified a novel missense mutation in the carnitine palmitoyltransferase II (CPT II) gene in a child with CPT II deficiency characterized clinically by episodes of myalgia and myoglobinuria induced by intercurrent febrile illnesses. The patient was heterozygous for a G-to-A substitution at codon 487, changing an encoded glutamic acid to a lysine (E489K), while the other allele carried the common S113L mutation. This case enlarges the spectrum of mutations in patients with CPT II deficiency, and confirms the association of the S113L mutation with the muscular form.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/19. Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome in childhood: a report of ten cases and review of the literature.Chronic recurrent multifocal osteomyelitis is a rare chronic inflammatory musculoskeletal process observed in children and young adults. Recently, the acronym SAPHO syndrome (for synovitis, acne, pustulosis, hyperostosis, osteitis) was coined to emphasise the association between osteo-articular inflammations and different skin abnormalities which are aseptic and filled with neutrophils. In adults, chronic recurrent multifocal osteomyelitis is now a classical manifestation of SAPHO syndrome. Chronic skin disorders were seen in eight of ten children on follow-up at the University Children's hospitals in Bern and Zurich and in 61 of 260 paediatric cases reported in the literature. The different skin lesions were palmoplantar pustulosis (n = 40), non-palmoplantar pustulosis (n = 6), psoriasis vulgaris (n = 16) or severe acne (n = 4). More rarely sweet syndrome (n = 2) or pyoderma gangrenosum (n = 1) were reported. Conclusion: The synovitis, acne, pustulosis, hyperostosis, osteitis syndrome is pertinent even in paediatrics since skin involvement is frequent.- - - - - - - - - - ranking = 2keywords = palm (Clic here for more details about this article) |
3/19. Three-headed reversed palmaris longus muscle: a case report and review of the literature.The palmaris longus muscle (PLM) is extremely variable both in number and form. We present the first reported case of three-headed reversed PLM in a 36-year old woman. The relevant literature is reviewed. Variations of the muscles of the forearm and specifically the PLM are not uncommon. However, different rates are given for the types and agenesis of PLM. In one study, the incidence of agenesis was 12.8% and other anomalies were 9%. 15 cases of reversed PLM have been reported in the literature. In our case, the three-headed PLM was resected. The patient's symptoms resolved and at 1-year follow-up she remains symptom-free.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
4/19. Cavernous haemangioma in the hand mimicking subacute tenosynovitis.A case of cavernous haemangioma arising from the superficial palmar arch is described. The initial symptoms were those of a subacute tenosynovitis. Surgical exploration showed that the tumor was not affecting the flexor tendons. It was completely resected and the patient had full recovery of hand function.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/19. Cryoanalgesia with dichlorotetrafluoroethane lessens the pain of botulinum toxin injections for the treatment of palmar hyperhidrosis.BACKGROUND: hyperhidrosis is a troublesome problem that can be embarrassing in both social and professional situations. Botulinum toxin injections have proven efficacious in the treatment of hyperhidrosis. However, when treating palmar hyperhidrosis, pain at the injection site limits this therapy. We describe a method of cryoanalgesia using dichlorotetrafluoroethane to lessen the pain of botulinum toxin injections during the treatment of palmar hyperhidrosis. OBJECTIVE: To show the successful use of dichlorotetrafluoroethane or Frigiderm in the treatment of palmar hyperhidrosis. methods: This is a case report of a patient with a 20-year history of palmar hyperhidrosis who had previously tried several unsuccessful techniques to control pain during botulinum toxin injections to his palms. The left hand of the patient was pretreated with a spray of Frigiderm for 5 seconds before each of the botulinum injections. Two to 3 seconds of dichlorotetrafluoroethane at a distance of 2 to 4 inches were sprayed before each palmar injection. There was 1 to 2 seconds of frosting on the skin before the botulinum toxin was administered. After the botulinum toxin injection was administered, the patient was subjectively asked about pain during injection. RESULTS: The patient subjectively reported a 75% decrease in the intensity of pain with the Frigiderm application, which he said made the injections much more tolerable. No epidermal changes were noted at the time of treatment or at the telephone follow-up visit. The patient presented for follow-up 3 months later. He stated that the sweating had minimally returned but that he had not yet returned to baseline. CONCLUSION: The use of botulinum toxin for the treatment of palmar hyperhidrosis is often limited because of the pain of multiple injections. In this case report, we describe the successful use of cryoanalgesia with dichlorotetrafluoroethane or Frigiderm to lessen the pain of botulinum toxin injections during the treatment of palmar hyperhidrosis.- - - - - - - - - - ranking = 12keywords = palm (Clic here for more details about this article) |
6/19. Resting tachycardia, a warning sign in anorexia nervosa: case report.BACKGROUND: Among psychiatric disorders, anorexia nervosa has the highest mortality rate. During an exacerbation of this illness, patients frequently present with nonspecific symptoms. Upon hospitalization, anorexia nervosa patients are often markedly bradycardic, which may be an adaptive response to progressive weight loss and negative energy balance. When anorexia nervosa patients manifest tachycardia, even heart rates in the 80-90 bpm range, a supervening acute illness should be suspected. CASE PRESENTATION: A 52-year old woman with longstanding anorexia nervosa was hospitalized due to progressive leg pain, weakness, and fatigue accompanied by marked weight loss. On physical examination she was cachectic but in no apparent distress. She had fine lanugo-type hair over her face and arms with an erythematous rash noted on her palms and left lower extremity. Her blood pressure was 96/50 mm Hg and resting heart rate was 106 bpm though she appeared euvolemic. Laboratory tests revealed anemia, mild leukocytosis, and hypoalbuminemia. She was initially treated with enteral feedings for an exacerbation of anorexia nervosa, but increasing leukocytosis without fever and worsening left leg pain prompted the diagnosis of an indolent left lower extremity cellulitis. With antibiotic therapy her heart rate decreased to 45 bpm despite minimal restoration of body weight. CONCLUSIONS: bradycardia is a characteristic feature of anorexia nervosa particularly with significant weight loss. When anorexia nervosa patients present with nonspecific symptoms, resting tachycardia should prompt a search for potentially life-threatening conditions.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
7/19. Acral erythema caused by high-dose methotrexate therapy in patients with osteogenic sarcoma.High doses of methotrexate (MTX) have been incorporated in the treatment of osteogenic sarcoma since the 1970s. Unfortunately, high-dose MTX (HD-MTX) can cause untoward side effects that may complicate the proper management of these patients. Two cases of MTX-induced acral erythema are described and the possible implications of this complication are reviewed, with a discussion of the pathophysiology of this adverse effect. Two young female patients suffering from osteogenic sarcoma received HD-MTX (12 g/m2) according to the chemotherapeutic protocol. A 17-year-old patient with osteogenic sarcoma of the head developed painful acral erythema of her palms and soles after the fifth dose of MTX, and a 22-year-old patient with osteosarcoma of the femur developed severe acral erythema after the sixth dose. The severity of the reaction was significant enough to cancel further treatment with HD-MTX in both patients. All symptoms resolved without sequellae several weeks later in both cases. Acral erythema may pose a significant albeit transient phenomenon adversely influencing chemotherapy in patients suffering from osteosarcoma and treated with HD-MTX. The pathophysiology of this side effect is not completely understood and further investigation of the pharmacokinetics of HD-MTX in this patient population is needed.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
8/19. Aquagenic wrinkling of the palms in patients with cystic fibrosis homozygous for the delta F508 CFTR mutation.BACKGROUND: Aquagenic wrinkling of the palms (AWP) is a rare condition characterized by the rapid and transient formation of edematous whitish plaques on the palms on exposure to water (the so-called hand-in-the-bucket sign). The changes may be asymptomatic or accompanied by pruritic or burning sensations. First described in 1974 in patients with cystic fibrosis--and still primarily reported in these patients--this condition has been previously described only in females. Specific mutations in CFTR, the gene responsible for cystic fibrosis, have not been reported previously in patients with AWP. OBSERVATIONS: We describe 2 patients with AWP, both of whom are homozygous for the delta F508 mutation in CFTR: a 17-year-old boy--the first male reported to have this condition--who has had AWP for 3 years and a 13-year-old girl who has had AWP for 6 months. CONCLUSIONS: cystic fibrosis should be considered in patients with AWP, and patients with cystic fibrosis should be asked about symptoms of this condition. Although the etiology of AWP is unknown, the association with cystic fibrosis, and with marasmus and cyclooxygenase-2 inhibitors, suggests that exposure of the skin to abnormally high concentrations of salt may play a role in its pathogenesis.- - - - - - - - - - ranking = 6keywords = palm (Clic here for more details about this article) |
9/19. Aquagenic syringeal acrokeratoderma: report of a case with histologic findings.Aquagenic syringeal acrokeratoderma is a rare acquired condition characterized by painful symmetric swelling and hypopigmentation of the palms and lateral fingers, which develops after brief exposure to water. Histopathologic examination suggests that an aberration in the eccrine sweat gland apparatus may be the underlying cause of this condition. The "hand-in-the-bucket sign," in which patients arrive in their physician's office with their hand in a bucket of water to more readily demonstrate their lesions, is such a common presentation that it almost can be regarded as pathognomonic. All 12 cases reported to date have been in young females. We report a case of aquagenic syringeal acrokeratoderma in a male with unique histologic findings.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
10/19. hypertrophy of pacinian corpuscles in a young patient with neurofibromatosis.hypertrophy of pacinian corpuscles is a condition that has been reported very infrequently. It was thought not to be connected with neurofibromatosis. A 24-year-old female with a lifelong history of neurofibromatosis type 1, who presented with left ring finger pain and decreased sensation for over 1 year is reported. Histopathology showed hypertrophy of pacinian corpuscles. hypertrophy of pacinian corpuscles should be considered in the differential diagnosis of any patient with persistent pain localized to the distal palm or digits. This is the first case reported in a patient with neurofibromatosis. The finding of this lesion in a patient with neurofibromatosis is somewhat intriguing, though the relationship of these two entities is unclear.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
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