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Thyroid acropachy is a rare complication of autoimmune thyroid disease with characteristic imaging findings. Clinically, it presents as nail clubbing, swelling of digits and toes, almost always in association with thyroid ophthalmopathy and dermopathy. On radiographs, it manifests as prominent irregular and spiculated periosteal new bone formation in the hands and feet. We present a 52-year-old man with history of Graves’ disease who presented with swelling of the hands and feet. Radiographs of the hands and feet revealed marked diffuse soft tissue edema and characteristic periosteal new bone formation most consistent with thyroid acropachy. Keywords: Thyroid acropachy, Metabolic bone disease

Introduction: Unilateral and bilateral tongue cyanosis usually occurs due to the Raynaud syndrome and in the underlying severe types of vasculitis and rheumatology.Case Presentation: The present study was conducted on a 54-year-old woman who referred to the emergency department with complaints of sudden and painless discoloration of the left half of the tongue. The patient had no history of disease other than diabetes controlled with glibenclamide. Clinical examination of the head and neck revealed evidence of unilateral cyanosis in the left half of the tongue without pain, whose discoloration did not improve with warming of the tongue.Conclusion: Cyanosis in the emergency department can be managed appropriately by considering some parameters including history taking, history of cyanosis occurrence, history of cardiopulmonary disease, cold sensitivity and history of rheumatologic diseases, presence or absence of nail clubbing, arterial blood oxygen saturation and arterial blood gas test results. These parameters can be effective in designing a treatment regimen, while differentiating the causes of central from peripheral cyanosis.

Background The link between clubbing and laxative abuse has been reported several times in the literature, in all cases in young females. The nature of this relationship is not understood. Case A young female, with no history of hepatic, pulmonary or malignant disease was found to have nail clubbing in the context of laxative abuse. A literature review revealed several similar cases. Conclusion Laxative abuse is an important consideration in the assessment of clubbing in populations at risk of eating disorders, to prevent over-investigation and facilitate management of the eating disorder itself. This case highlights a new clinical presentation of an eating disorder. Case A 36-year-old woman was being reviewed by a renal specialist for renal impairment and electrolyte disturbances, in the context of a background of multiple renal calculi 4 years prior, hypokalaemia and hypercalcaemia. The attending nephrologist brought attention to her nails, which demonstrated clubbing. She stated that she had had clubbing for 10 years, and that it was of gradual onset and not associated with any pain. There was no history of hepatic, cardoipulmonary or malignant disease.

A 26 year old woman presented with a 10 year history of recurrent lower respiratory tract infections, productive cough, progressive dyspnoea on exertion, and difficulty gaining weight. She had no history of loose or frequent bowel movements, or abdominal pain, and did not smoke. She had not been in contact with any sources of tuberculosis and had no family members with chronic pulmonary conditions. Her body mass index was 18.9 kg/m2, lung sounds were clear, and there was no evidence of nail clubbing. Chest radiography and computed tomography revealed upper lobe predominant bronchiectasis (fig 1, arrow) and airways with mucoid impaction (fig 1, arrowhead). …

Isolated congenital nail clubbing (ICNC; OMIM 119900) is a rare genodermatosis in which bilateral, symmetric enlargement of the nail plate and terminal segments of fingers and/or toes results from excessive proliferation of connective tissue between the nail matrix and distal phalanx. Loss of the normal angle between the nail and posterior nail fold is associated with a shiny, hypoplastic, thick-ended, long, broad nail. The thumbs are almost always involved, though some fingers or toes may be spared. Both autosomal dominant and autosomal recessive forms of ICNC have been described, sometimes associated with other systemic anomalies, which may include primary hypertrophic osteoarthropathy (PHO), the similar disorder pachydermoperiostitis (PDP), as well as cardiovascular, gastrointestinal, pulmonary and metabolic disorders.1,2 This article is protected by copyright. All rights reserved.

The Schamroth sign can be used for the detection of nail clubbing and is associated with pulmonary and cardiovascular diseases. This case illustrates a patient with sudden nail clubbing and positive Schamroth sign without any other abnormal clinical or laboratory findings. Radiological workup revealed a pleural tumor, histologically confirmed as a solitary fibrous tumor. After thoracoscopic tumor resection, normalization of the nail clubbing with complete resolution of the Schamroth sign was observed. Our case demonstrates that sudden nail changes with positive Schamroth sign may indicate a new neoplastic pulmonary disease. It is of great importance to increase the awareness of this feature in order to obtain a timely diagnosis, specific treatment, and improved patient care.

Introdução: A patologia dermatológica é muitas vezes motivo de consulta em medicina geral e familiar. O caso clínico descrito corresponde ao diagnóstico de líquen plano, que é um problema de saúde pouco frequente. O líquen plano é uma doença inflamatória crónica, imuno-mediada e de etiologia desconhecida que afeta entre 0,22 a 5% da população mundial. Descrição do caso: Sexo masculino, 60 anos de idade, sem antecedentes patológicos de relevo. Em outubro de 2014 recorre à consulta de cuidados de saúde primários por apresentar quadro com cerca de um mês de evolução, caracterizado por pápulas pruriginosas nas mãos, tronco, dorso e pés. Apresentava ainda estriação das unhas das mãos com dor à palpação do leito ungueal. Ao exame objetivo apresentava pápulas poligonais, achatadas e bem definidas, de coloração violácea, agrupadas e confluentes, na face anterior dos punhos, na região anterior do tórax, no dorso e na face anterior dos tornozelos. Como lesões associadas apresentava hipocratismo digital, eritema palmar, eritema periungueal, com atingimento da matriz, adelgaçamento da lâmina ungueal, sulcos longitudinais em toda a superfície ungueal e dor à palpação da raiz das unhas. Foi pedida colaboração de dermatologia via ALERT®, tendo sido sugerido o diagnóstico de líquen plano. Iniciou terapêutica com corticoterapia tópica que não foi eficaz, tendo posteriormente iniciado griseofulvina 500mg/dia, com melhoria do quadro. Comentário: Este caso clínico enfatiza a importância da comunicação entre especialidades para a abordagem dos problemas do doente, de forma a agilizar o tratamento e a melhorar a qualidade de vida. Introduction: Skin complaints are a common cause for visits to the primary care physician. This case report describes a patient diagnosed with lichen planus, which is an uncommon health problem. It is a chronic, inflammatory, immune-mediated disease of unknown etiology that affects from 0.2 to 5% of the population. Case report: A 60 year-old male patient, previously in good health, saw his family physician in October 2014 complaining of pruritic papules on the hands, trunk, back and feet, which appeared one month before. He also had pain on pressure over his fingernails. Physical examination showed polygonal, flat, well-defined purple papules, grouped and confluent, on the anterior surface of the wrists, chest, back, and the ventral region of the ankle. The patient also presented nail clubbing, erythema on the anterior surface of the hands, periungueal erythema affecting the matrix, thinning, and longitudinal grooves of the nail surface and pain on palpation of the root of the nails. The primary care physician requested dermatology consultation via the on-line referral service (ALERT®). The dermatologist suggested the diagnosis of lichen planus. The patient began therapy with a topical corticosteroid, which was not helpful. He subsequently started treatment with griseofulvin, 500mg per day, which was effective. Comment: This case report emphasizes the importance of communication between specialists to address the patient's problems, in order to expedite treatment and improve quality of life.

Objective: Although a higher prevalence of psychiatric disease has been reported in patients with Graves disease, the nature of this association is unclear. Biologically plausible mechanisms have been described to link severe psychological stress with dysregulation of the immune system and loss of self-tolerance. Methods: We describe a 53-year-old female with Graves disease who developed acute, painful finger swelling during a state of heightened psychological distress. The Graves disease had been treated definitively with radioactive iodine several years prior to the onset of these symptoms. There was a clear temporal relation between the onset of the patient's acute manic episode, which was sufficently severe to lead to admission to an inpatient psychiatric ward, and the subsequent development of finger swelling about 1 week later. Results: Hand radiographs demonstrated erosion and thickening of the periosteum in the proximal phalanges of both hands and new cortical bone formation at these sites. These changes are consistent with thyroid acropachy, a connective-tissue manifestation of Graves disease. The patient was also noted to have marked nail clubbing and pretibial myxedema, characterised by a violaceous eruption overlying both shins. Conclusion: The pathogenesis of soft-tissue manifestations of Graves disease are incompletely understood. This case supports the possibility that severe psychological stress may exacerbate thyroid autoimmunity and specifically, rare soft-tisse manifestations of this condition. Abbreviations: TSH = thyroid-stimulating hormone

We report a case of a three-and-a-half-year-old boy, who presented with poor general condition, stunted growth, had the presence of nail clubbing, persistent cough and frequent diarrhoea. Persistent iron deficiency anaemia without signs of haemolysis suggested Lane-Hamilton syndrome (LHS) which is or/is an extremely rare combination of idiopathic pulmonary haemosiderosis (IPH) and celiac disease (CD), although both diseases are immunologically mediated and the pathogenetic link between them is not clear. We have now 3 years of follow-up on gluten-free diet (GFD), resulting in a gradual recovery of the abnormal laboratory results in combination with an improving growth. Clinically, he is asymptomatic without any additional treatment. Our case illustrates that CD should be specifically looked for in patients with IPH, especially those in whom the severity of anaemia is disproportionate to the IPH symptoms. Both diseases may benefit from a GFD.

Problem-based learning (PBL) is a common instructional format used at many medical schools. It promotes active, self-directed learning, connecting medical students to their future real-world experience as well as enhancing training and problem-solving skills, teamwork, and interdisciplinary interactions. The PBL small-group format provides a unique opportunity over both semesters for first-year medical students to study clinical cases in a self-directed fashion and develop professional skills at various levels. The advantages of the presented lung cancer case are numerous. Clinical presentation is typically late since symptoms are not obvious and initial diagnosis is frequently misleading. A considerable number of tests are required to arrive at the final diagnosis, providing a variety of learning opportunities, as do the initially successful treatment options, including an example of personalized medicine. The follow-up and typical relapse provide additional learning opportunities, including the inevitable failure of therapy and the psychosocial issues surrounding end-of-life care. This case was implemented in the spring semester in February 2014 over three 90-minute sessions. One hundred twelve first-year medical students divided into groups of eight took the course. The lead author served as a facilitator for one of the 14 groups and received direct feedback about all aspects of the case from the students' perspective. In addition, feedback was received from other facilitators in informal discussions. Finally, the case was evaluated by each group of students on a standard form after it had been concluded. The critique received was overall very favorable and helped optimize the case for this resource. Most points were minor, but comments led to rebalancing of the material between sessions to aim at a similar amount of new material introduced between Sessions 1 and 2. Since students have formal opportunities to research learning issues only after Sessions 1 and 2, the new material introduced in Session 3 is kept to a minimum. It is planned to continue to update the case based on future student feedback and new developments.

Pachydermoperiostosis (PDP), a form of primary hyper­trophic osteoarthropathy (PHO), is a rare hereditary disease diagnosed by the presence of the triad of digital clubbing, periostosis, and pachydermia (1, 2). Elevated prostaglandin E2 (PGE2) levels with cytokine­mediated tissue remodelling and vascular stimulation may underlie PHO and is associated with the features such as hyper­hidrosis, acroosteolysis, pachydermia, periostosis and arthritis (3). Homozygous and compound heterozygous germline mutations in the 15­hydroxyprostaglandin dehydrogenase (HPGD) gene encoding the major PGE2 catabolizing enzyme have been described in familial PHO cases (4). We report here a case of primary PDP with increased serum PGE2 levels that was not accompanied by HPGD mutations.CASE REPORTA 53­year­old man was referred to our hospital. He began to experience idiopathic symmetrical arthral­gias of both knees at around 20 years of age. Physical examination revealed thickened skin on the face and head, and marked clubbing of the fingers (Fig. 1a, b). No other remarkable physical findings were observed, and he did not present seborrhoea, acne, folliculitis or hyperhidrosis. Family history was non-contributory. All laboratory tests including serum levels of growth hormone, insulin­like growth factor­1, thyroid fun­ction, immunoglobulins, haemoglobin A1c, and bone mineral metabolism were within normal ranges, which ruled out thyroid acropathy and acromegaly. Magnetic resonance imaging of the head revealed cutis verticis gyrate (Fig. 1c). X-ray examination of the knee region revealed periostosis with cortical thickening and ec­topic ossification (Fig. 1d). Histology of the forehead skin revealed acanthosis in the epidermis, sebaceous and sweat gland enlargement, and mucin deposits in the dermis (Fig. 2). These findings met the diagnostic criteria of the complete form of PDP.Since it has been reported that PGE2 is a mediator of this disorder, we examined PGE2 levels using a com­mercial enzyme immunoassay kit (Cayman, Cayman Biochemical, Ann Arbor, MI, USA). Consistent with the previous reports, PGE2 levels were elevated in plasma (401 pg/ml, normal 3–12) and urinary (6,086 ng/mmol creatinine, normal < 50). Intriguingly, mutational analysis using genomic DNA that was isolated from the peripheral blood did not detect HPGD mutations.DISCUSSIONMutations in HPGD have been identified in 4 families affected with PHO and in a single family with isolated congenital nail clubbing as an autosomal­recessive trait (4, 5). Impaired metabolism of PGE2 is considered critical in the pathogenesis of PHO. However, in our case, no mutations in HPGD were detected despite the elevated PGE2 levels. These findings suggest that another contributing factor may affect the PGE2 increase. Consistent with our findings, a report exists of a familial case of autosomal­dominant isolated digital clubbing without any mutations in HPGD (6). Furthermore, Seifert et al. (7) found another mutation in PG trans­porter (PGT) encoding gene

Cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, is a very rare autosomal-recessive condition characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Recently, mutations in the gene HPGD, which encodes the NAD(+)-dependent 15-hydroxyprostaglandin dehydrogenase, were reported in four families affected with primary hypertrophic osteoarthropathy and one family with autosomal-recessive isolated nail clubbing. We report the clinical and molecular findings in four patients from two families affected with cranio-osteoarthropathy and one family with isolated, autosomal dominant digital clubbing. Genome-wide homozygosity mapping identified a locus for cranio-osteoarthropathy harboring the HPGD gene in one affected family. We detected two novel homozygous mutations in HPGD in these families: a missense mutation affecting the NAD(+) binding motif and a frameshift mutation. The clinical presentation in our patients was variable. Digital clubbing and hyperhidrosis were present in all cases. Delayed closure of the cranial sutures and fontanels, periostosis, and arthropathy were not consistent clinical features. No HPGD mutation was detected in a familial case of autosomal dominant isolated digital clubbing. The failure to identify any mutation in a family with an autosomal dominant type of isolated digital clubbing suggests that HPGD is not the major gene for this condition.

Background: Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. In the present study, we have investigated a large Pakistani family with eleven affected individuals having hereditary congenital nail clubbing as a single invariable clinical feature without any associated ectodermal, skeletal or systemic imperfection. Objective: To identify a gene underlying the ICNC phenotype. Methods: A genome-wide homozygosity linkage mapping strategy was used to identify the gene causing ICNC. DNA sequencing was performed to screen ten candidate genes located in the linkage interval. Results: We assigned the disease locus for the ICNC to a 13.25-cM region on chromosome 4q32.3-q34.1. This region corresponds to 12.27-Mbp according to the sequence-based physical map (Build 36.1) and flanked by markers D4S2952 and D4S415. A maximum two-point LOD score of 2.98 (θ = 0.00) was obtained at marker D4S2368 while a maximum multipoint LOD score of 3.62 was obtained with several markers along the disease-interval. Sequence analysis of the candidate genes, lie in the ICNC linkage interval, revealed a homozygous missense mutation (c.577T>C; p.S193P) in exon 6 of the human HPGD gene encoding NAD+-dependent 15-hydroxyprostaglandin dehydrogenase (15-PGDH). Conclusions: The involvement of 15-PGDH in the pathogenesis of the ICNC may open up interesting perspectives into the function of this enzyme in nail morphogenesis/development. Key words: isolated congenital nail clubbing (ICNC); 4q32.3-q34.2; HPGD; missense mutation

Reflex sympathetic dystrophy (RSD) is a poorly understood neurovascular disorder characterized by pain, altered sensation, motor disturbance, soft tissue changes, vasomotor changes, and autonomic changes that occurs after trauma to an extremity. Unilateral leukonychia, Beau's lines, nailfold swelling, and nail clubbing have been an observed sequela of RSD. We present a case of a unilateral atypical trachyonychia occurring in the setting of RSD after traumatic fracture of a digit.