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.

Osteoartropatía hipertrófica primaria y queratodermia palmoplantar: a propósito de un caso / Primary hypertrophic osteoarthropathy and palmoplantar keratoderma: a case report

La acropaquia es un trastorno que puede presentarse en forma aislada o formar parte del síndrome de osteoartropatía hipertrófica, entidad caracterizada por periostosis, dolor articular y acropaquia. Cuando este síndrome es causado por una mutación genética específica, se denomina osteoartropatía hipertrófica primaria. Este raro desorden hereditario se asocia, además, a alteraciones dermatológicas típicas, como hiperseborrea, acné, engrosamiento de pliegues faciales, entre otras. Una asociación rara vez descrita es la queratodermia palmoplantar. Se presenta el caso de una mujer de 46 años con osteoartropatía hipertrófica primaria asociada a queratodermia palmoplantar que asistió a la unidad de dermatología del Hospital Gustavo Fricke, Viña del Mar, Chile.

Clubbing is a disorder that can be an isolated finding or be part of the hypertrophic osteoarthropathy syndrome, an entity characterized by periostosis, joint pain and clubbing. When this syndrome is caused by a specific genetic mutation, it is called primary hypertrophic osteoarthropathy. This rare hereditary disorder is also associated with typical dermatological findings, such as hyperseborrhea, acne and facial feature coarsening. An association rarely described is palmoplantar keratoderma. We present the case of a 46-year-old woman with primary hypertrophic osteoarthropathy and palmoplantar keratoderma who came to the dermatology unit of Gustavo Fricke Hospital, Viña del Mar, Chile.

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.

Tratamento cirúrgico da paquidermoperiostose primária - relato de dois casos / Surgical Treatment of Primary Pachydermoperiostosis: Report of Two Cases / Surgical Treatment of Primary Pachydermoperiostosis: Report of Two Cases

A paquidermoperiostose primária é uma doença rara, caracterizada por aposição excessiva do periósteo do crânio, coexistindo com espessamento da epiderme e derme (paquidermia), provocando deformidades grosseiras. Devido à diversidade de estruturas acometidas, há várias opções cirúrgicas e métodos complementares que são utilizados no tratamento das alterações faciais desses pacientes. Esse trabalho apresenta o lifting subperiosteal como uma opção de tratamento estético para a face de pacientes portadores dessa síndrome, através do relato de dois casos operados no Hospital das Clínicas da Universidade Federal de Minas Gerais.

Primary pachydermoperiostosis is a rare disease characterized by excessive skull affixing of the periosteum, coexisting with thickening of the epidermis and dermis (pachydermia), thereby causing gross deformities. Owing to the variety of affected structures, there are several surgical options and complementary methods that are used in the treatment of facial alterations in these patients. This report describes the use of subperiosteal detachment as an aesthetic treatment option for the faces of two patients with primary pachydermoperiostosis, operated at the Hospital das Clínicas of the Federal University of Minas Gerais.

A Case of Acroosteolysis in Primary Hypertrophic Osteoarthropathy

Primary hypertrophic osteoarthropathy or pachydermoperiostosis is a rare hereditary disorder characterized by digital clubbing, pachydermia and periostosis. Its precise incidence and prevalence is still unknown due to the lack of controlled data. It occurs without any underlying causes and usually has a chronic course. Life expectancy may be of normal standards, but many patients develop multiple functional and cosmetic complications. So, it is important to diagnose this disease at an early stage and to treat the symptomat for the quality of life. We report a case of primary hypertrophic osteoarthropathy in a 68-year-old male with clinical features such as digital clubbing and pachydermia, radiographic findings of acroosteolysis and periosteal new bone formation.

Pachydermoperiostosis Accompanied by Heart Failure

Pachydermoperiostosis or primary hypertrophic osteoarthropathy is an uncommon disease of acromegaloid facial feature, but characterized by unique phenotype (digital clubbing and pachydermia) and distinctive radiographic appearances like periostosis. We experienced a case with complete form of pachydermoperiostosis accompanied by heart failure. He presented with typical features consisting of clubbing with enlargement of the hand, thickening of facial skin and periosteal new bone formation involving lower leg. Echocardiography revealed severely decreased left ventricular systolic function. Treatment with medications resulted in an improvement of cardiac function and symptom. There is no previous report documenting pachydermoperiostosis accompanied by heart failure. We report that case for the first time.

Arthroscopic Synovectomy in a Patient with Primary Hypertrophic Osteoarthropathy / 대한류마티스학회지

No abstract available.

Pachydermoperiostosis (Primary Hypertrophic Osteoarthropathy): Case Report

We report a case involving a young male with the complete form of primary hypertrophic osteoarthropathy. He presented with the typical features of the condition: thickening and furrowing of the skin of the forehead and scalp, and digital clubbing of the hands and feet. Plain radiographs of the long bones of the extremities depicted bilateral irregular, shaggy, cortical diaphyseal thickening. T1- and T2-weighted magnetic resonance imaging(MRI) of the femur demonstrated low-signal-intensity cortical thickening. Bone scintigraphy revealed no photon uptake in the long bones.