Digital Clubbing Research Articles

Graphical User Interface (GUI) of Digital Index Evaluation System for Finger Clubbing Identification

This paper presents the development of a Graphical User Interface (GUI) for calculating the sum of nail-fold (NF) and distal interphalangeal joint (DIP) ratios for all ten fingers. The sum of NF:DIP ratios for all ten fingers leads to the Digital Index (DI) that was used as the measure for identifying and determining the presence of finger clubbing symptom. This GUI system was developed to serve as a simple and user-friendly interface for clinicians to calculate DI value of patients in a busy clinic practice. It is also equipped with the capability to keep the patient’s past diagnosis medical check-up data for future monitoring purposes. The result shows that the developed system helps the clinicians to perform calculation of DI value and identify the presence of finger clubbing in a very short time. The average time taken to measure both NF and DIP circumferences using Finger Clubbing Meter, and to compute DI values using Digital Index Evaluation System (DIES) interface is 6:36 ± 1:24 minutes (Mean ± SD) .This system is expected to contribute in detecting the finger clubbing problem at early stage of so the treatment can be performed immediately.

INFECTIOUS ENDOCARDITIS WITH COXIELLA BURNETII

Q fever is caused by an anthropozoonosis determined by the pathogen Coxiella burnetii, a gram-negative bacterium with intracellular growth. The occurrence of infection in the human species takes place through inhalation of contaminated aerosols or dust from infected domestic animals (cattle, sheep, goats) and more rarely through ingestion of unpasteurized milk, infected mite or inter-human transmission. The endocardium is one of the main infection sites, especially in the context of the long-term development of the disease, and cardiac decompensation often leads to death in absence of a proper diagnosis and appropriate treatment (1).We present the case of a patient of the male sex aged 37 years without personal pathologic history known admitted in “St. Parascheva” Clinical Hospital for Infectious Diseases Iasi complaining of productive cough, fatigue, shortness of breath with moderate effort and pain in the left scapulohumeral joint with irradiation in the left upper limb. Clinical examination objectified digital clubbing, systolic/diastolic murmurs throughout the precordium area and hepato-splenomegaly, while laboratory tests revealed the presence of inflammatory syndrome, cholestasis and hepatic cytolysis. Echocardiography shows a hyperechogenic entity at the level of the aortic valve, as well as a severe valve disorder. The diagnosis of infective endocarditis is established on aortic valve and therapy with first-choice antibiotics, consisting of triple combination of cefotaxime, amikacin and vancomycin, is initiated. Blood cultures taken upon admission were negative, while positive serological phase I and II tests for C. burnetii urged the indication of changing therapy with doxycycline and trimethoprim sulfamethoxazole (in the absence of hydroxychloroquine). Subsequently he underwent aortic valve replacement. The particularities of this case consisted in atypical clinical manifestations, the absence of fever and epidemiological context suggestive for Q fever.

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

Primary hypertrophic osteoarthropathy (PHO) is a congenital multisystemic entity characterized by three major clinical symptoms: pachydermia, periostosis, and digital clubbing. Recently it has been reported that pathogenic mutations in two genes are known to be associated with PHO: HPGD and SLCO2A1. In the present study, a five-generation consanguineous Pakistani family harboring primary hypertrophic osteoarthropathy in autosomal-recessive pattern was ascertained. Whole genome single nucleotide polymorphisms (SNPs) genotyping and sequence analysis revealed a novel homozygous missense mutation (c.577T˃C) of the human HPGD gene in all affected members of the family. The study presented here demonstrate the first case of primary hypertrophic osteoarthropathy reported in Pashtun population.

Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review

BackgroundPrimary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis is a rare genetic disease which predominantly affects skin, bone and soft connective tissue. It is characterized by the triad of pachydermia, digital clubbing and periostosis of long bones. Arthralgia or arthritis is also present in most of the cases. Genetic studies have identified the impaired PGE2 metabolism as a culprit for hypertrophic osteoarthropathy in PHO cases. We conducted a systematic review to examine the effectiveness of Non-Steroidal Anti-Inflammatory Drugs (NSAIDs), a PGE2 synthesis blocker to reduce the symptoms among PHO patients. MethodsWe searched the evidence in five databases; Cochrane Library, CINAHL, EMBASE, MEDLINE, and PubMed. We reported the evidence using narrative synthesis. ResultsOut of 238 identified studies, we selected 26 for the synthesis. All were case reports which included a total of 54 patients. Among them, 39 patients were treated with at least one type of NSAIDs. Around 70% of the patients treated with NSAIDs had clinical improvement for their symptoms, mostly arthritis or arthralgia symptoms. ConclusionNSAIDs were effective in improving arthralgia or arthritis symptoms in majority of the PHO patients. Therefore, we recommend the use of NSAIDs in PHO patients to treat arthralgia or arthritis.

Pachydermoperiostosis: a case report

Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood or adolescence. It is characterized by digital clubbing, pachydermia and periosteal reaction and progresses gradually over the years prior to disease stabilization. Two genes are reported to be associated with PHO – HPGD and SLCO2A1. These genes are involved in prostaglandin E2 metabolism.
 We present a description of a 19-year-old patient with PHO. We found two mutations in the SLCO2A1 gene: p.Gly183Ar (chr3:133673888, NM_005630.2:c.547G>A) and p.Cys444Gly (chr3:133664070, NM_005630.2:c.1330T>G) through molecular genetic analysis. The mutation (p.Cys444Gly) has never been recorded in previous studies.
 This work expands our knowledge of the mutation spectrum of PHO, which will facilitate faster genetic diagnosis and interpretation of genetic information in prenatal diagnosis and genetic counseling.

Clubbing in patients with fibrotic interstitial lung diseases.

Clubbing is associated with poor prognosis and is variably present in patients with idiopathic pulmonary fibrosis (IPF), but is also seen in other fibrotic interstitial lung diseases (ILDs). Little is known about the best methodology to assess clubbing in ILDs and, hence, the prevalence and clinical utility and clinical significance of clubbing. We therefore aimed to evaluate the agreement between different clubbing assessment methods in patients with fibrotic ILDs. Additionally, we assessed the prevalence of clubbing in different fibrotic ILDs and related clubbing to disease severity and quality of life. Consecutive outpatients with fibrotic ILDs of two tertiary referral centers were included. Clubbing was assessed with the phalangeal depth ratio, the digital index, the Schamroth sign test, and by the treating physicians and investigator. We included 153 patients (100 men), mean age 65 (range 33-88), mean FVC 79% (25-145%), mean TLCOc 50% (16-104%). Different methods for assessment of clubbing had poor correlation, and as a result, clubbing prevalence varied according to the method used, ranging from 7 to 42% in the total group of patients and 7-52% in IPF. The degree of clubbing did not correlate with FVC or TLCOc (p>0.2) or with quality of life scores, but lower mean TLCOc scores were seen in patients with clubbing than in those without. Clubbing was present in 7-42% of our fibrotic ILD cohort and showed no correlation with disease severity. Although considered an important clinical feature, assessment methods for clubbing showed no to poor agreement. Further studies are therefore needed to gain more insight into measuring clubbing reliably and the possible prognostic value and evolution of clubbing.

Touraine–Solente–Gole syndrome

ABSTRACTTouraine–Solente–Gole syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of Touraine–Solente–Gole syndrome with bilateral blepharoptosis as presenting feature.

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study

Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis, and pachydermia. Based on two causative genes, hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family member 2A1 (SLCO2A1), PHO is categorized into two subtypes: hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1) and hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2). In this study, we summarized the clinical manifestations and analyzed SLCO2A1 gene in 23 PHOAR2 patients in our center. As a result, 18 patients displayed complete phenotypes of PHO with digital clubbing, periostosis, and pachydermia. 29 mutations were found in total, and 22 of them were novel mutations including 13 missense, three nonsense, four deletion, one frame-shift and one splicing site mutations. Compared with nine PHOAR1 patients we previously reported, PHO patients with SLCO2A1 mutations were all male and presented with a later onset age. Peptic ulcers and myelofibrosis occurred only in PHOAR2 patients. The urinary level of prostaglandin E2 metabolite (PGEM) is significantly higher in PHOAR2 patients than that in PHOAR1 group. In conclusion, this study was the largest cohort to date to summarize PHOAR2 patients and to assess the phenotypic difference between two subtypes of PHO. The difference of urinary PGEM concentration between two subtypes is helpful for the differential diagnosis of PHO.

Pachydermoperiostosis: The value of molecular diagnosis

Pachydermoperiostosis is a rare autosomal recessive genetic disorder characterized by the association of periostosis and pachydermia. To date, two genes involved in prostaglandin metabolism, HPGD and SLCO2A1, have been identified. A 7-year-old girl presented digital clubbing of the hands and feet, curved nails, hyperhidrosis, and pachydermia, as well as eczema of the trunk and limbs. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the HPGD gene. The second case concerned a 41-year-old male with acral and cephalic pachydermia (cutis verticis gyrata), and palmoplantar keratoderma. Bone X-rays showed changes in the distal ends of several bones. The diagnosis of pachydermoperiostosis was confirmed by the detection of a homozygous mutation in the SLCO2A1 gene. The genotype/phenotype correlation suggests that patients with SLCO2A1 mutations will develop the symptoms later in life, but that these will be more severe, with a greater likelihood of cutis verticis gyrata and joint involvement compared with patients presenting HPGD mutations. In addition, hereditary enteropathy has recently been described in patients with SLCO2A1 mutations, which could account for the gastrointestinal picture seen in the second patient. Finally, on account of cases involving myelofibrosis associated with mutations in the SLCO2A gene, these patients should have a hematologic follow-up. Given the genotype/phenotype correlations illustrated by these cases, it would appear useful to propose molecular diagnosis for patients presenting pachydermoperiostosis.

Secondary hypertrophic osteoarthropathy caused by non-pleural or pulmonary tumors.

Hypertrophic osteoarthropathy (HOA) is a rare paraneoplastic syndrome characterized by digital clubbing, periosteal reaction, polyarthralgia, arthritis, and synovitis. Herein, we report a case series of patients with secondary HOA caused by non-pleural or pulmonary tumors.The radiologic databases of 2 tertiary university hospitals were retrospectively screened for secondary HOA patients. In addition, a systemic review of the published case reports. Only HOA cases with non-pleural or pulmonary malignancies were involved into the study. HOA in primary pleural or pulmonary malignant or benign disorders, as well in inflammatory diseases were excluded. In all cases, plain radiography was performed and clinical signs were documented.In our databases, 6 patients with secondary HOA were identified. In addition, the systemic review yielded 24 eligible patients. The most prevalent primary tumors were nasopharyngeal carcinoma and esophageal cancer in 6 patients (20%), respectively. In 17 patients, (56.7%) HOA was associated with lung metastases, and in 10 patients (33.3%), no lung metastases were detected. In 14 patients (46.7%), HOA was symptomatically before a tumor diagnosis was made. Plain radiography displayed typically features with periostal enlargement in every case.This study is the first report about secondary HOA caused by non-pleural or pulmonary tumors. Various primary tumors were identified, including several rare tumors such as sarcomas. HOA is a rare disorder with typically radiologically findings, which is not only associated with lung cancer or pleural mesothelioma and can even occur in tumor patients without lung metastasis.

Interleukin-6, tumor necrosis factor-alpha and receptor activator of nuclear factor kappa ligand are elevated in hypertrophic gastric mucosa of pachydermoperiostosis

Pachydermoperiostosis (PDP) is a rare inherited multisystem disease characterized with digital clubbing, pachydermia and periostosis. Variants in either HPGD or SLCO2A1 that interrupt the prostaglandin E2 (PGE2) pathway have been shown to be involved in PDP. Here, in addition to six confirmed variants in HPGD or SLCO2A1, we identified four novel SLCO2A1 variants in eight PDP patients from seven Chinese Han families. In addition, gastric mucosa hyperplasia was observed in all affected individuals and interleukin-6 (IL-6), tumor necrosis factor-alpha (TNFα) and receptor activator of nuclear factor kappa ligand (RANKL) expression were elevated in hypertrophic gastric mucosa. Two of eight patients who had severe arthralgia were treated with celecoxib. After three months, their arthralgia was partly relieved and IL-6, TNFα and RANKL expression were decreased in accordance with their relieved hypertrophic gastric mucosa. Our study broadens the variation spectrum of SLCO2A1 and suggests that the gastric mucosa hyperplasia might be a common characteristic of PDP. Moreover, celecoxib would be a considerable choice for PDP patients. We also revealed that IL-6, TNFα and RANKL may play important roles in the molecular mechanisms of gastric mucosa hyperplasia in PDP for the first time.

Touraine-Solente-Gole Syndrome: A Rare Case Report

Touraine-Solente-Gole Syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of Touraine-Solente-Gole Syndrome with bilateral blepharoptosis as presenting feature.

Generalized finger clubbing reveals the cause of secondary gout.

Generalized finger clubbing reveals the cause of secondary gout.

Complete form pachydermoperiostosis in Tunisia – A case series and literature review

IntroductionPachydermoperiostosis (PDP) or hypertrophic osteoarthropathy (HOA) is a rare disease that has genetic predisposition and defined clinical features. Aim of the workTo study and analyse the clinical features of Tunisian PDP patients and review the literature. Patients and methodsThe PDP cases attending the Rheumatology Department of the University Hospital Farhat Hached of Sousse in Tunisia were retrospectively studied over a period of 17years (2000–2017). Secondary causes were excluded. ResultsThe PDP cases had a primary and complete form of the disease and included 6 men at a frequency of 0.03% (6/20,000) of the total number of rheumatic diseases cases attending the rheumatology clinic. The mean age was 27±12.3years [18–46years]. Five patients had arthralgia and one polyarthritis. Thickening of the skin of the head and distal extremities (pachyderma) and deep folds and furrows of the skin of the forehead was observed in all cases. Digital clubbing of the fingers and toes and spade-like enlargement of the hands and feet was noted in 5 cases. Hyperhidrosis of the hands and feet was observed in 4 cases and seborrhea in 2. Elevated acute phase reactants were found in 4 cases. Hypergammaglobulinemia was present in one case. Periostosis of the long bones was observed in all cases. Treatment consisted of analgesics in all cases, non-steroidal anti-inflammatory drugs in 2 cases and tamoxifen in 2 cases. ConclusionsComplete form of primary PDP is rarely present among rheumatic diseases patients in Tunisia. A multicenter larger number longitudinal study is recommended.

A Rare Case Of Graves’ Disease With Splenomegaly And Pancytopenia

Introduction: Splenomegaly and pancytopenia are rare complications of Graves' disease with few reports in the literature about this association. The pathogenesis is unknown and immunological mechanisms seem to be involved. The possibility of hyperthyroidsm should always considered in patients with pancytopenia.
 Objective: Describe clinical case of association between Grave's disease, splenomegaly and pancytopenia.
 Method: This is a case report, obtained through data from medical records of a reference hospital located in the city of Juazeiro do Norte, Ceara, Brazil. Case report: Patient, 46 years old, female, sought treatment at a reference hospital with abdominal pain that started two days earlier, prevalent in mesogastric region and left hypochondrium very intense and recurrent, associated with significant consuptive syndrome ( loss of 10 Kg in 4 months), asthenia, dyspnea on minimum exertion, irritability and fine tremor in extremitie. SHe denied fever, palpitations, heat intolerance, skin ou eye changes. A diffuse thyroid enlargement with the presence of thrill and murmur, digital clubbing, fixed and bright look, light exophthalmos and splenomegaly about 6 cm below the left costal margin were abserved after physical examination. Ultrasound examination (USG) of the abdomen and CT scan showed moderate splenomegaly. Laboratory tests showed normocytic and normochromic anemia, leukocytosis and mild thrombocytopenia. Thyroid USG showed characteristic features of Graves' disease, a bone marrow biopsy revealed maturation preserved in all strains and lack of fibrosis and megakaryocytes present in normal number without atypia. treatment was set with propylthiouracil 300 mg a day and after the first revaluation after hospital discharge three weeks later a regression of splenomegaly has been observed.
 Conclusion: This case ilustrates the rare association between hyperthyroidism and splenomegaly with pancytopenia.

Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene

We report on a rare case of pachydermoperiostosis (PDP) in a 25-year-old male who was admitted to our hospital because of enlargement of fingers and toes. Through examination, we found some typical features on the patient including finger clubbing, periostosis, pachydermia, and cutis verticis gyrata (CVG). But laboratory tests were almost within normal ranges, which ruled out rheumatic arthritis, osteopulmonary arthropathy, thyroid acropathy, and acromegaly. Then, we diagnosed this case as PDP, which was confirmed by gene sequencing. The pathogenesis is concerned with abnormal rise of the level of PGE2 that results from the solute carrier organic anion transporter family member 2A1 (SLCO2A1) gene defect. Meanwhile, we found a novel missense mutation c.101T > C of the SLCO2A1 gene in the patient with PDP.

Failure to Thrive in Infants and Toddlers

Failure to thrive (FTT) is a broad term that is used to document an abnormal pattern of weight gain over time. There is no single definition for FTT, but all proposed definitions use anthropometric parameters such as weight gain or weight for length. The term FTT has been falling out of favor, and the term weight/growth faltering is becoming more common to describe this clinical entity. The underlying problem in FTT is inadequate usable calories. The primary mechanisms leading to FTT are impaired absorption, increased metabolic demands, and inadequate caloric intake. Inadequate caloric intake is the most common of these mechanisms, although FTT is often a combination of the three. The diagnostic evaluation of FTT must take into account the multifactorial nature of this clinical sign. A comprehensive history is essential for diagnosis and should include specific questions about the child’s living situation and feeding habits. The physical examination must include accurate weight and length measurements. Clinicians should look for signs of abuse or neglect, dysmorphic features, abnormal skin or nail findings, digital clubbing, or other signs of chronic disease. Laboratory investigations are rarely revealing in FTT but should be considered if there is a high index of suspicion for underlying disease. Treatment in FTT favors a multidisciplinary approach. The primary goal of treatment is restoration of normal growth velocity. Children with FTT are at increased risk for growth and cognitive problems in later childhood, although the clinical significance of these findings is not well understood. The mainstay of treatment is increasing calories in the diet. Enteral feeding, orally or via a tube, is always preferred over parenteral feeding due to a better safety profile, ease of feeding, and lower cost. Parenteral nutrition is an acceptable way to meet caloric needs in infants and children when enteral nutrition is not possible. Children with FTT and malnutrition should be monitored closely for refeeding syndrome, which results from fluid and electrolyte shifts in malnourished children. In general, FTT can be treated on an outpatient basis with close follow-up. Indications for hospitalization include severe malnutrition/dehydration and concern for child endangerment. Key words: enteral feeding, failure to thrive, growth charts, nutrition, parenteral nutrition, poor weight gain, tube feeding, weight loss

Clinical analysis of seven cases of pulmonary malignant tumors in children

Objective: To understand the clinical manifestation, imaging characteristics and outcomes of pulmonary malignant tumors in children. Method: We retrospectively collected information about seven cases of pulmonary malignant tumors in children in our hospital from Jan 2010 to Dec 2016. The information included clinical manifestation, imaging characteristics, pathologic results, and treatment. Result: (1) All the seven patients firstly visited pediatric internal medicine departments. Symptoms included cough (n=6), dyspnea (n=4), fever (n=2), anorexia (n=2), chest tightness (n=1), chest pain (n=1), lameness (n=1), abdominal distension and constipation (n=1). We did not find hemoptysis, wheezing or weight loss in those patients. Physical examinations revealed unilateral reduced breath sounds (n=5), moist rales and wheezes (n=1), and normal (n=1). Extrapulmonary signs included abdominal distension (n=2), left hip tenderness (n=1), and mass in left scrotum. We did not identify clubbing finger, anemic appearance, lymph node enlargement, or hepatosplenomegaly etc. (2) Laboratory examination results: complete blood count showed white blood cells in normal range except one case (17.44×10(9)/L). Neutrophil percentage ranged from 0.348 to 0.767. C reactive protein ranged between<1 and 162 mg/L. Hemoglobin was normal. Three out of four cases had abnormal blood tumor markers.(3) Imaging results showed multiple nodes (n=3), multiple cystic lesions in lungs (n=2) (both with pleuropulmonary blastoma), endobronchial soft tissue mass (n=1), pulmonary round-shaped mass (n=1), and mediastinal mass (n=1). Imaging results also found atelectasis (n=3), pneumonia (n=2), pneumothorax (n=2), longitudinal diaphragmatic hernia (n=2), pleural effusion (n=1), subcutaneous emphysema (n=1). (4) All the patients underwent tumor puncture biopsy or tumor resection. Pathology revealed the final diagnosis of pleuropulmonary blastoma (n=3), endodermal sinus tumors (n=2), squamous cell carcinoma of lung (n=1), and thyroid papillary carcinoma (n=1). All of them were malignant tumors. We followed up them. Two patients died (both with pleuropulmonary blastoma) after their parents refused any medical help. Two cases were lost to follow-up. Three patients survived (followed up for 19 months, 11 months and tow months, respectively). One case with thyroid papillary carcinoma pulmonary metastasis underwent right thyroid cancer radical plus left thyroid lobe resection plus modified selective central lymph node dissection, then iodine (131) treatment. One case with endodermal sinus tumor pulmonary metastasis underwent three times of chemotherapies, resection of left retroperitoneal tumor and left testicular tumor, and six additional chemotherapies. Another one case of endodermal sinus tumor pulmonary metastasis underwent three times of chemotherapies and was discharged. Conclusion: Pulmonary malignant tumors are rare diseases in children. Clinical signs are often non-specific. For those with chest CT showing multiple cystic lesions, endobronchial soft tissue mass or multiple nodes, but no significant infection manifestation or no response to anti-infection therapy, pulmonary malignant tumors should be considered. Biopsy may be needed to confirm the final diagnosis.

P.11.18: Finger Clubbing in Inflammatory Bowel Disease: High Frequency in Extensive Small Bowel Crohn’s Disease In A Prospective Study

P.11.18: Finger Clubbing in Inflammatory Bowel Disease: High Frequency in Extensive Small Bowel Crohn’s Disease In A Prospective Study

Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy

Objective: To analyze the clinical and genetic features of primary hypertrophic osteoarthropathy (PHO). Methods: The clinical data of one Chinese pedigree of PHO, namely pachydermoperiostosis (PDP) were collected.Blood samples were drawn from the propositus and other family members.DNA was extracted and genetic analysis was performed by Sanger method after PCR.The sequencing data of HPGD gene exons were analyzed by alignment with sequences from National Center for Biotechnology Information (NCBI). Results: (1)The propositus represented symptoms in childhood including clubbing fingers, sweating, seborrhea, joint swelling and so on.Periosteal thickening and bone hyperplasia were found by X-ray. (2)The homozygous mutation named c. 310_311delCT in propositus, which located in the third exon of HPGD, was identified.His parents carried the same heterozygous mutation, while his sister did not inherit any mutation of this gene. (3)The prediction of spatial structure of proteins revealed that the mutant proteins had about 60% discrepancy compared with wild-type protein, losing a lot of motifs responsible for combining with coenzyms and prostaglandin E(2), as well as active sites of enzymes. Conclusions: The clinical manifestations and imaging findings are helpful to diagnose PDP. Moreover gene mutation analysis ensures the diagnosis.The structure and function of HPGD gene mutation induce 15-hydroxy prostaglandin dehydrogenase mutation, contributing to the occurrence of PDP.