A case of elephant extremities in a Filipino male: Primary Familial Pachydermoperiostosis

@#This is a rare case of primary pachydermoperiostosis (PDP). A 28-year-old Filipino male presented with a lifelong history of enlarged hands and feet. He eventually developed symmetrical swelling of the ankles and knees associated with leg heaviness and knee pain with difficulty with ambulation, hence consult. His eldest brother also had the same “elephant-like” extremities. He had cutis vertices gyrata with a thickened corrugated hair pattern, deep lines on the forehead, deepened nasolabial folds, enlarged extremities especially distally, with coarse, thick skin, and prominent clubbing. The nails were convex “watch crystal-like.” The wrists, knees, and ankles were tender and enlarged, with massive effusion of the knees. All joints were devoid of warmth and erythema. Skeletal survey favored hypertrophic osteoarthropathy over acromegaly, with periosteal thickening of the metaphysis and digital clubbing. The filarial smear was negative for blood parasites. Skin biopsy showed keratoderma. Synovial fluid was non-inflammatory while arthroscopic synovial biopsy showed chronic inflammation eosinophilic amorphous tissue. Electrocardiogram, echocardiogram, thyroid function tests, complete blood count, peripheral blood smear, serum chemistries, coagulation tests, urinalysis, urine electrolytes, fecalysis, and chest CT scan were unremarkable. Whole abdomen ultrasound revealed the liver parenchymal disease. Hepatitis profile revealed chronic infection with hepatitis B, with low infectivity. The three major criteria for PDP (pachydermia, periostitis, and digital clubbing) were fulfilled. Possible secondary causes were either excluded or were non-contributory. He was started on analgesics and anti-inflammatory medicines. Repeated arthrocenteses drained liters of synovial fluid per knee, and along with intra-articular steroid injections and compressive bandages, temporarily relieved his bilateral knee pain. He was referred to rehabilitation to maximize his range of motion and to address body image issues. The patient remains on regular follow-up for periodic arthrocentesis. The option of anti-VEGF treatment and arthrotomy was explored as possibilities but were not deemed practical. PDP is a rare genodermatosis. Life span is not affected but the quality of life is dismal without supportive management, as there is no known cure. A multidisciplinary team composed of a rheumatologist, dermatologist, orthopedic surgeon, plastic surgeon, rehabilitation physician, and a psychiatrist should be available to assist in the needs of these patients.

Acropaquias: del signo a la enfermedad / Acropachy: From sign to disease

RESUMEN Las acropaquias, también llamadas dedos en palillo de tambor, se presentan como un aumento de la convexidad ungueal sobre una falange distal engrosada. Su origen es multifactorial, siendo la causa más frecuente las neoplasias, aunque también puede ser idiopático. Pueden encontrarse de forma aislada o formando parte de la osteoartropatía hipertrófica. La importancia de su diagnóstico radica en la alta frecuencia de enfermedad maligna subyacente, por lo que debe ser rápido y exhaustivo. Presentamos 2 casos de pacientes con acropaquias asociados a neoplasia subyacente.

ABSTRACT Acropachy, also called clubbed fingers, presents as increased nail convexity over a thickened distal phalanx. Its origin is multifactorial, with the most frequent cause being neoplasms, although it can also be idiopathic. They can be found in isolation, or as part of hypertrophic osteoarthropathy. The importance of its diagnosis lies in the high frequency of underlying malignant pathology, so it must be rapid and comprehensive. Two cases are presented of patients with acropachy associated with underlying neoplasia.

Complete form of pachydermoperiostosis

Abstract Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. Its pathogenesis is uncertain and the diagnosis is based on clinical and radiological data. A complete form of the syndrome is reported in a male patient with disease onset in adolescence, with compatible clinical and radiological findings, presenting the three cardinal findings as well as other associated manifestations, such as hyperhidrosis and acne.

Identification of a HPGD mutation in three families affected with primary hypertrophic osteoarthropathy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect mutation of HPGD gene among three pedigrees affected with primary hypertrophic osteoarthropathy (PHO) by DNA sequencing and high-resolution melting (HRM) analysis.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples collected from the pedigrees. PCR and direct sequencing were carried out to identify potential mutations of the HPGD gene. Amplicons containing the mutation spot were generated by nested PCR. The products were then subjected to HRM analysis using the HR-1 instrument. Direct sequencing was carried out in family members and healthy individuals to confirm the result of HRM analysis.</p><p><b>RESULTS</b>A homozygous mutation c.310_311delCT was detected in 2 affected probands, while a heterozygous mutation c.310_311delCT was detected in the third proband. HRM analysis of the fragments encompassing HPGD exon 3 showed 3 curve patterns representing three different genotypes, i.e., the wild type, the c.310_311delCT homozygote, and the c.310_311delCT heterozygote. Result of DNA sequencing was consistent with that of the HRM analysis and phenotype of the subjects.</p><p><b>CONCLUSION</b>The c.310_311delCT mutation may be the most prevalent mutation among Chinese population. HRM analysis has provided an optimized method for genetic testing of HPGD mutation for its simplicity, rapid turnover and high sensitivity.</p>

Cutis verticis gyrata secundária à paquidermoperiostose. Relato de caso / Cutis verticis gyrata secondary to pachydermoperiostosis - case report

A cutis verticis gyrata é uma condição do couro cabeludo caracterizada por sulcos e dobras profundas, causando o espessamento da pele que lhe dá uma aparência semelhante aos giros do córtex cerebral. Pode ser congênita ou adquirida, e predomina no sexo masculino. É classificada de acordo com sua etiologia primária (essencial e não essencial) e secundária. Descrevemos aqui um caso de cutis verticis gyrata secundária à paquidermoperiostose em paciente do sexo masculino jovem, apresentando suas manifestações clínicas, laboratoriais e radiológicas. Estudo descritivo constando de relato de caso e revisão de literatura nas bases de dados da Biblioteca Virtual de Saúde. Foram obtidos artigos originais científicos nas bases LILACS, SciELO, Scopus e PubMed, buscando-se pelos descritores: "couro cabeludo", "doenças da pele e do tecido conjuntivo", "anormalidades da pele" e "dermatopatias". O limite temporal foi 2010 e as línguas escolhidas foram português, inglês, italiano, espanhol e francês. Paciente do sexo masculino, 25 anos, apresentando hipertrofias lineares em couro cabeludo, acompanhado de dor nas mãos, tornozelos e articulação coxofemoral. Presença de baqueteamento digital e hiperidrose palmoplantar. Trata-se de uma doença rara e progressiva, cuja avaliação clínica é essencial para definir a forma da cutis verticis gyrata e excluir outras síndromes associadas.

Cutis verticis gyrata (CVG) is a scalp condition characterized ridges and deep folds causing thickening of the skin, giving an appearance similar to the cerebral cortex gyri. It can be congenital or acquired, and predominates in males. It is classified according to its primary and secondary etiology (essential and non-essential). A case of Cutis verticis gyrata secondary to pachydermoperiostosis (PQP) is described in a young male patient, with its clinical, laboratory and radiological findings. This is a descriptive study consisting of a case report and review of literature on the Virtual Health Library databases (BVS). Scientific original articles were obtained in LILAC, SciELO, Scopus and PubMed databases, searching the keywords: "scalp", "skin and connective tissue diseases", "skin abnormalities" and "skin diseases" .The time limit was year 2010, and the languages chosen were Portuguese, English, Italian, Spanish and French. Male patient, 25 years old, with linear hypertrophy on the scalp, accompanied by pain in the hands, ankles and hip joint. Presence of digital clubbing, and palmoplantar hyperhidrosis. It is a rare, progressive disease whose clinical assessment is essential to define the type of cutis verticis gyrata, and to rule out other associated syndromes.

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.

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.

Progress in genetic research on pachydermoperiostosis / 中华医学遗传学杂志

Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.

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.

Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the genetic cause for a Chinese Han family affected with primary hypertrophic osteoarthropathy.</p><p><b>METHODS</b>Whole blood and urine samples were collected from a patient and 7 unaffected relatives of the family. The coding sequences and intron/exon boundaries of HPGD and SLCO2A1 genes of the patient were amplified with polymerase chain reaction and sequenced. The genotypes of relatives were subsequently verified. Urinary prostaglandin level was measured with enzyme-linked immunosorbent assay (ELISA).</p><p><b>RESULTS</b>A homozygous 2-bp deletion in HPGD gene (c.310_311delCT, or p.L104AfsX3) was detected in the patient, and 5 heterozygous carriers were identified in the relatives. The urinary prostaglandin E2 (PGE2) level was significantly elevated (P<0.01), while PGE-M was significantly reduced (P<0.01) in the patient.</p><p><b>CONCLUSION</b>Primary hypertrophic osteoarthropathy in this family is caused by a homozygous mutation (c.310_311delCT) in the HPGD gene.</p>

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.

Ptose palpebral causada por Paquidermoperiostose / Palpebral ptosis caused by Pachydermoperiostosis

A paquidermoperiostose é uma síndrome caracterizada por acometimento cutâneo e ósseo, e em alguns casos ocorre comprometimento palpebral leve. É uma síndrome rara, idiopática ou hereditária, com provável herança autossômica dominante de penetrância variável. Descreve-se o caso de um paciente com ptose grave por paquidermoperiostose elucidando sua fisiopatologia e conduta cirúrgica aplicada.

Pachydermoperiostosis is a rare disorder characterized by the involvement of skin and bone, and in some cases it can have a mild adverse effect in the eyelid. Although the etiology is still unclear, idiopathic or hereditary cases, in an autossomal dominant inheritance, have been reported. This study is a case report of a patient with severe blepharoptosis due to pachydermoperiostosis, which describes the surgical procedure and the physiopathology of the condition.

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.

Cutis verticis gytara / Cutis verticis gyrata

El cutis verticis gyrata es una condición del cuero cabelludo caracterizada por pliegues convolutos y surcos profundos de piel engrosada que le confieren un aspecto cerebriforme. Puede ser congénito o adquirido y predomina en hombres. Se clasifica de acuerdo a suetiología en primario (esencial y no esencial) y secundario. En este último caso las patologíassubyacentes son diversas. Puede formar parte de varios síndromes. El tratamiento esquirúrgico y se realiza por motivos estéticos...

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

No abstract available.

Cutaneous lesions and finger clubbing uncovering hypocomplementemic urticarial vasculitis and hepatitis C with mixed cryoglobulinemia / Lesoes cutaneas e baqueteamento digital reveladores de vasculite urticariforme hipocomplementemica e hepatite C com crioglobulinemia mista

Urticarial vasculitis is a rare clinicopathologic entity characterized by urticarial lesions that persist for more than 24 hours and histologic features of leukocytoclastic vasculitis. Patients can be divided into normocomplementemic or hypocomplementemic. The authors report the case of a healthy 49-year-old woman with a 1-year history of highly pruritic generalized cutaneous lesions and finger clubbing. Laboratory tests together with histopathologic examination allowed the diagnosis of hypocomplementemic urticarial vasculitis, chronic hepatitis C and type II mixed cryoglobulinemia. The patient started symptomatic treatment and was referred to a gastroenterologist for management of the hepatitis C, with progressive improvement of the skin condition. The development of hypocomplementemic urticarial vasculitis in the context of chronic hepatitis C is exceedingly rare and possible pathogenic mechanisms are discussed.

A vasculite urticariforme é uma entidade clinico-patológica rara caracterizada por lesões urticariformes com duração superior a 24 horas e uma vasculite leucocitoclásica na histologia. É dividida em normo e hipocomplementêmica. Os autores relatam o caso de uma mulher saudável de 49 anos, com lesões cutâneas intensamente pruriginosas e baqueteamento digital com 1 ano de evolução. O estudo efectuado permitiu efectuar os diagnósticos de vasculite urticariforme hipocomplementêmica, hepatite C crônica e crioglobulinêmia mista tipo II. A doente iniciou tratamento sintomático e foi referenciada para a Gastroenterologia para orientação da hepatite, com melhoria progressiva das lesões cutâneas. O desenvolvimento de vasculite urticariforme hipocomplementêmica no contexto de hepatite C crónica é raro e os possíveis mecanismos patogênicos são discutidos.

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.

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.

Artropatía de Charcot secundaria a tabes dorsal: reporte de un caso / Charcot`s arthropathy due to tabes dorsalis: case report

El Tabes Dorsal (TD) es una enfermedad toxico degenerativa donde hay afectación de las raíces, los ganglios y los cordones posteriores de la médula espinal por la espiroqueta de la sífilis, como manifestación tardía de la enfermedad. La TD es muy rara en nuestro medio. El 5 a 10 % de los pacientes presentan una Osteoartropatía Neuropática, que afecta de forma predominante a las articulaciones de las extremidades inferiores. Se presenta el caso de un paciente masculino de 29 años de edad, con diagnóstico clínico y de laboratorio de sífilis, el cual inicia su enfermedad actual en febrero de 2003 con trastornos de la marcha, acompañado de artralgias progresivas y espasticidad en miembros inferiores. Al examen físico se encontró marcha con aumento de la base de sustentación, signo de Romberg positivo, arreflexia rotuliana y aquílea. Los estudios radiológicos de ambas rodillas muestran signos importantes de destrucción articular. Se realizó una Artroplastia Total de Rodilla (ATR) izquierda. La ATR se puede ofrecer a un selecto grupo de pacientes con OAN en estadíos finales

The Tabes Dorsalis (TD) are a degenerative toxic disease where there is roots, ganglia and posterior cords affectation of the spinal marrow by the syphili´s spiroquette, as delayed manifestation of the disease. TD is very rare in our means. 5 to 10% of these patients development a Neuropathic osteoarthropathy (NOA), that affects the joints of the lower extremities. We present the case of a 29 years old masculine patient, with clinical and laboratory diagnosis of syphilis, which initiates his disease in February 2003 with march upheavals, accompanied by progressive arthralgias and lower limbs spasticity. To the initial physical examination, there was march with sustenation base increased, lower extremity osteotendonous areflexia and positive Romberg's sign. The radiological studies of both knees show important signs of articular destruction. A left Total Knee Arthroplasty (TKA) was made. TKA can be offered to a select group of patients with NOA in final stages