5 Cases Analysis of Pachydermoperiostosis Complicated with Synovitis / 罕见病研究

  Objective  To analyze the clinical characteristics, treatments and prognosis of pachydermoperiostosis (PDP) with synovitis, and to improve clinicians′ understanding of PDP.  Methods  The clinical data of 5 patients diagnosed with PDP in Peking Union Medical College Hospital from January 2010 to June 2015 were retrospectively analyzed.  Results  Among the 5 patients in this study, all were male, with an average age of (24.2±3.8)years old. The main manifestations of PDP were joint swelling and pain and skin thickening. In this study, all 5 patients were treated with medication, including non-steroidal anti-inflammatory drugs, glucocorticoids, and immunosuppressants, and 4 patients were treated with arthroscopic minimally invasive synovectomy. Their symptoms gradually improved and controlled. The last patient′s symptoms of synovitis were mild and significantly relieved after conservative treatment.  Conclusions  The diagnosis of PDP is still challenging. Symptoms can be alleviated, and the progression of the disease can be basically controlled after active drug therapy and surgical mitigation measures.

Pachydermoperisotosis: A Rare Case Report

Pachydermoperiostosis (PDP) is a rare disorder with variable presentation and it is characterized by clubbing of the fingers (acropachia), skeletal changes (periostosis), thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). Clinical presentations of PDPcan be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly. We report a patient with complete PDP.

The mask of furrow: A case of a 28-year-old Filipino male with pachydermoperiostosis

@#Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder that affects mainly skin and bones. Its main clinical features are pachyderma (thickening of the skin), periostosis ~excessiv~ bone formation) and clubbing of fingernails. The d1sea~e is more common among males with a 7:1 ratio, starts during adolescence and stabilize and cease progression after 5 - 20 years.@*OBJECTIVE@#To discuss the summary of the case, new management options, and outcomes of the management options.@*CASE SUMMARY (METHODS)@#A 28-year-old male presents with a 9-year history of wrinkling of his facial skin. Other associated symptoms were seborrhea, acne, clubbed fingers, and occasional minimal knee joint pain. Histopathology results showed thickened dermis, fibrosis of the papillary dermis and around the folliculosebaceous units, hyalinized collagen bundles involving the fibrous trabeculae of the subcutis, and prominence of sebaceous and eccrine glands. The patient was given oral isotretinoin at 0.5 mg/kg/day, underwent fractional CO~ laser f?r rhytides and large pores, and given botuhnum toxin A injection (total of 16 U) on 5 sites at the glabellar region. The patient was referred to plastic surgery for frontal rhytidectomy, and orthopedic surgery for management of joint pains.@*RESULTS@#The patient noted 80% improvement from baseline.@*CONCLUSION@#Treatment of pachydermoperiostosis is mainly symptomatic and requires a multi-spec~alty approach. Because of its rarity, treatment options for pachydermoperiostosis have yet to_ be standardized. In this particular case, all available options in the institution were utilized which led to satisfaction of the patient of the outcome.

Síndrome de touraine-soulente-golé: reporte de caso / Touraine -soulente-golé syndrome: case report

RESUMEN: La paquidermoperiostosis es un raro desorden hereditario caracterizado por periostosis, paquidermia y acropaquia. Su expresividad es variable, por lo que son infrecuentes las formas completas de este síndrome. Se postula que sus manifestaciones clínicas se debana la formaciónexcesiva de colágenoyla desregulacióndeproteínas de la matrizdebido a lahiperactivaciónfibroblástica. Reportamos el caso de un varón de 32 años, quien desde los 18 años presenta edema en extremidades asociado a alteraciones en cara y cuero cabelludo.Presentamos el caso por haberse manifestado deforma completa, que es infrecuente, y por su semejanza con otras enfermedades.

ABSTRACT: Pachydermoperiostosis or primary hypertrophic osteoarthropathy, also known as Touraine-Solente-Golé syndrome, is a rare disorder, frequently inherited, characterized by periostitis of long bones,pachydermia (thickening of the skin) andacropachia. Expression tends to be variable, and so complete versions of the syndrome are infrequent. Abnormalities in fibroblast functionality have been implicated, along with an increase in collagen fibers´ synthesis.We report the case of 32-year-old man that consulted for cutaneous manifestations (thickening of face, scalp, hands and feet´s skin) since 18 years-old. We highlight the importance of the complete form of presentation and due to its similarity to other diseases.

Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations / 中南大学学报(医学版)

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.

A Case of Primary Form of Pachydermoperiostosis / 대한피부과학회지

Pachydermoperiostosis (PDP) is a male predominant rare genodermatosis. Various clinical presentations includes pachydermia (thickened and folded skin), periostosis and digital clubbing. Both the skin and the extremity findings are seen in the complete form, whereas the incomplete form lacks the skin findings. We report a case of primary form of pachydermoperiostosis together with literature review.

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1) were reported as pathogenic genes responsible for PDP. Both genes are involved in prostaglandin E2 (PGE2) degradation. We aimed to identify responsible genes for PDP and the clinical features in Korean patients with PDP. Six affected individuals and their available healthy family members from three unrelated Korean families with PDP were studied. All of the patients displayed complete phenotypes of PDP with finger clubbing, pachydermia, and periostosis. Mutation analysis revealed a novel heterozygous mutation in the SLCO2A1 gene at nucleotide 302 causing a substitution of the amino acid isoleucine to serine at codon 101 (p.IIe101Ser) in affected individuals. We also identified known SLCO2A1 mutations, one homozygous for c.940+1G>A, and another compound heterozygous for c.940+1G>A and c.1807C>T (p.Arg603*) from two PDP families. Genetic analyses of the PDP patients showed no abnormality in the HPGD gene. Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PDP and could provide additional clues to the genotype-phenotype relations of PDP.

A Case of Pachydermoperiostosis Combined with Undifferentiated Arthritis

Pachydermoperiostosis (PDP) is a primary hypertrophic osteoarthropathy characterized by digital clubbing, pachydermia, and periostosis, which is inherited as an autosomal dominant or recessive trait. We report on a patient suffering from bilateral knee arthritis for 6 years who was newly diagnosed as PDP. PDP was confirmed by bilateral digital clubbing, hyperhidrosis, and cutis verticis gyrata, findings of pachydermatosis on the forehead and scalp, X-ray findings of proliferative periostitis. This case indicates that PDP is one of several possible rare diseases that should be considered in patients with undifferentiated arthritis.

Pachydermoperiostosis Associated with Peptic Ulcer and Hyperplastic Polyp of Stomach / 대한피부과학회지

No abstract available.

Touraine-Soulente-Gole Syndrome: A Rare Case Report and Review of the Literature

Touraine-Soulente-Gole Syndrome (TSG) or pachydermoperiostosis is a rare disorder characterized by pachydermia, periostosis & digital clubbing. Herein, we report a case of a 27 year old male, with the looks of a 47 year old. He presented with excessive wrinkling on his face since past 8 years. TSG syndrome was suspected and examined by histopathological, endocrinological and radiological studies for the confirmation of clinical diagnosis.

Touraine-Soulente-Gole Syndrome: A Rare Case Report and Review of the Literature

Touraine-Soulente-Gole Syndrome (TSG) or pachydermoperiostosis is a rare disorder characterized by pachydermia, periostosis & digital clubbing. Herein, we report a case of a 27 year old male, with the looks of a 47 year old. He presented with excessive wrinkling on his face since past 8 years. TSG syndrome was suspected and examined by histopathological, endocrinological and radiological studies for the confirmation of clinical diagnosis.

A Case of Pachydermoperiostosis / 대한피부과학회지

Pachydermoperiostosis is a very rare genodermatosis that is characterized by pachydermia, digital clubbing and periostosis. It usually occurs during adolescence and the disease is inherited in an autosomal dominant manner. Although the pathogenesis of this disease is still a matter of debate, it is associated with abnormal proliferation of fibroblasts, osteoblasts and endothelial cells and altered proteoglycan synthesis. We report here on a case of pachydermoperiostosis in a 21-year-old man who was diagnosed by the clinical features, skin biopsy and radiological examinations.

Primary hypertrophic osteoarthropathy: case report and literature review / Osteoartropatia hipertrófica idiopática: relato de caso e revisão da literatura

A osteoartropatia hipertrófica primária é uma síndrome rara, caracterizada pela presença de baqueteamento digital de mãos e pés, aumento das extremidades e de tecidos periarticulares secundários à proliferação óssea, fisionomia facial grosseira, dor e edema articular. A forma primária representa 3 a 5% de todos os casos de osteoartropatia hipertrófica e tem como fatores etiológicos influência genética, anormalidade da atividade fibroblástica e alteração no suprimento sanguíneo periférico. Apresenta evolução crônica e insidiosa, alternando fases de exacerbação com períodos assintomáticos. As manifestações clínicas são variáveis. A denominação síndrome completa é reservada aos casos com paquidermia (espessamento cutâneo da face e couro cabeludo, periostite e cutis vertici gyrata); síndrome incompleta, quando não há envolvimento do couro cabeludo; e frustra, quando se observa paquidermia com periostite mínima ou ausente. Os autores descrevem um homem branco de 39 anos diagnosticado com a forma primária da osteoartropatia hipertrófica. A partir do relato de caso, discutem-se características clínicas, radiológicas e a abordagem terapêutica dessa patologia.

Primary hypertrophic osteoarthropathy is a rare syndrome, consisting of clubbed hands, fingers, and feet digits; enlarged extremities secondary to periarticular and bone proliferation; thickened facial skin; painful and swollen joints. The idiopathic form represents 3 to 5 per cent of all cases of hypertrophic osteoarthropaty. Genetic influence, abnormal fibroblasts activity, and changes of the peripherical blood flow appear to be significant on the pathogenesis. Clinical manifestations are variable: the term complete syndrome is used for the patient with pachydermia, coarsening of the face skin and scalp, periostitis, and cutis verticis gyrata); the incomplete form, when there is no sparing of the scalp; and the frusted form for pachydermia with minimal or absent periostitis. The authors describe a 39-year-old white man diagnosed with primary hypertrophic osteoarthropathy. We also report the clinical and radiological carateristics of this syndrome and terapeutical approach of pachydermoperiostosis.

Pachydermoperiostosis / 中华内分泌代谢杂志

Pachydermoperiostosis is a rare genetic disease affecting both skin and bones. Excluding some secondary causes such as pulmonary or cardiac disease, young men with digital clubbing, pachydermia and periostosis should be considered to be suffering from pachydermoperiostosis.

A Case of Pachydermoperiostosis

PURPOSE: Pachydermoperiostosis is a rare hereditary disease characterized by finger clubbing, periosteal reaction, and pachydermia. The underlying pathogenic mechanism of this disease remains unclear. This disease is known to be associated with a variety of diseases such as cranial suture defect, bone marrow failure, hypertrophic gastropathy, Crohn's disease, and female escuchen. METHODS: A 50-year-old male had digital clubbing of both hands, coarse hypertrophic skin changes of face, progressive thickening and furrowing on the scalp(cutis verticis gyrata), persistent pain in the limbs and joints. Other cutaneous features include moderate blepharoptosis, pole-like lower legs and feet. RESULTS: We performed surgical excision for hypertrophic skin change of scalp because of frequent eczematous skin change, severe itching sensation and cosmetic problem. Diagnosis is confirmed by bony proliferative periosteal reaction, pathologic findings, and characteristic clinical findings. CONCLUSION: Pachydermoperiostosis is manifested by finger clubbing, and hypertrophic skin changes causing coarse facial features with thickening and periosteal bone formation. We experienced a case of pachydermoperiostosis. Brief review of related literature is given.

A Case of Pachydermodactyly / 대한류마티스학회지

Pachydermodactyly is a kind of benign fibromatosis in which asymptomatic symmetrical soft tissue swellings occur on the proximal phalanges and the proximal interphalangeal joints of the hands. Although young women can also be affected, the young men are affected most commonly. There is no bony or articular abnormality on radiographic study. Histological examination of skin demonstrated epidermal hyperplasia, hyperkeratosis, acanthosis and thickened reticular dermis by deposition of collagen. It is important to recognize this disease identity without misdiagnosis for other rheumatologic diseases to avoid inappropriate and possibly toxic treatments. We report a case of pachydermodactyly and discuss the differential diagnosis.

Dor articular na osteoartropatia hipertrófica primária: descrição de caso e revisão de tratamento / Arthralgia in primary hipertrophic osteoarthropathy: case report and review of the treatment

Apresentamos o caso de um paciente com baqueteamento digital e artrite que foi diagnosticado como tendo osteoartropatia hipertrófica primária. Essa é uma doença rara e benigna. Entretanto, artralgia e alterações cutâneas podem reduzir significativamente a qualidade de vida do paciente. Além de um breve resumo da doença, apresentamos o caso e a revisão da literatura, enfatizando o tratamento dessa condição para os clínicos em geral.

We report the case of a patient with clubbing of the digits and arthritis who was diagnosed as having primary hipertrophic osteoarthropathy. This is a rare, benign disease. However, the arthralgia and skin changes can significantly impair the quality of life of the patient. In addition to a brief description of the disease, we present the case and a review of the literature regarding the treatment of this condition to the general practitioner.

Pachydermoperiostosis in a 19 Year-old Boy Presenting as an Acromegaly-like Syndrome / 대한소아내분비학회지

A nineteen year-old boy with progressive enlargement of the joints and distal extremities, clubbing, coarse facial features and hyperhidrosis was investigated. In physical examination, thickening of the scalp with furrowing (cutis verticis gyrata) and greasy thickening of skin (pachyderma) was prominent. His endocrine profile was normal. Radiological studies demonstrated bilateral symmetrical periosteal new bone formation with acroosteolysis and incidental microadenoma of pituitay gland. After extensive investigation to exclude systemic and endocrine causes, the patient was diagnosed as pachydermoperiostosis (PDP). PDP is a rare syndrome manifested clinically by finger clubbing, extremity enlargement, hypertrophic skin changes, and periosteal bone formation. The pathogenesis of the disorder has not been clarified though few endocrine abnormalities were seen. To aware of these clinical phenotype would help to differentiate PDP from acromegaly.

A case of pachydermoperiostosis with peptic ulcer disease / 대한내과학회지

We experienced a Korean patient with complete form of pachydermoperiostosis. He presented with typical features consisting of clubbing with spade like enlargement of the hand and feet, thickening of facial skin and scalp, irregular thickening of cortex with periosteal new bone formation involving radii, ulnae, tibiae, and fibulae. Classically, pachydermoperiostosis is characterized by a triad of finger clubbing, periostitis, skin and soft tissue changes, giving an acromegaloid look. A variety of associated abnormalities have been described such as cranial suture defects, female escutcheon, bone marrow failure. There are a few reports documenting gastric ulcer, hypertrophic gastropathy and Crohn's disease as accompanying diseases. The patient had upper gastrointestinal bleeding caused by hemorrhagic gastritis and duodenal ulcer. A case is herein reported of pachydermoperiostosis accompanied by peptic ulcer disease.

Síndrome de Touraine Solente Goulé Paquidermoperiostosis primaria: breve revisión y reporte del primer caso en Costa Rica / Syndrome of Tourine Solente Goulé Pachydermoperiostosis primary: brief revision and reports of the first case in Costa Rica

La paquidermoperiostosis es una enfermedad poco frecuente que se caracteriza por un engrosamiento de la piel en el cuero cabelludo, frente y párpados, también ocurre en la piel de manos y pies, con un engrosamiento concomitante de las estructuras óseas de las extremidades. El crecimiento acral hace sospechar acromegalia. Su presentación puede ser idiopática, con inicio en la adolescencia y estabilización en la tercera y cuarta década, es de origen genético, de transmisión autosómico dominante y penetranica variable, o secundaria a enfermedades tumorales, principalmente pulmonares o intratorácicas de inicio en la cuarta y quinta décadas de la vida. El tratamiento para sus dos variedades es quirúrgico, ya sea reconstructivo tratándose de la primaria, con mejoría estética; o excisional en el caso de la secundaria, con regresión total o parcial a la normalidad. Se presenta el primer caso conocido en el ámbito de la medicina costarricense, a fin de dar a conocer esta patología al cuerpo científico y facilitar la detección de otros posibles casos. Esta es una enfermedad poco frecuente en el mundo y hasta ahora desconocida en nuestro país.

The disease known as pachydermoperiostosis is of rare occurrence and is characterized by thickening of the skin folds on the forehead and eyelids and in the extremities. It is also accompanied by a gross thickening of the underlying the bony structures of hands and feet, raising the diagnostic possibility of acromegaly. It has two presentations, idiopathic, which is transmitted in an autosomic and dominant fashion with variability in its penetrance and starts in the teen years and halts progression in the third and fourth decades of life, the secondary type starts in the fourth and fifth decade and its secondary to a pulmonary or intrathoracic tumoral lesion. Treatment consists in either reconstructive surgery for the primary type, with cosmetic acceptable results and surgical excision in the secondary type with partial or complete regression of the disease. We present to our knowledge what is the first reported case in Costa Rica with the purpose of informing the scientific body in our country of the existence of the disease and to help detect any other possible cases.