Pachydermoperiostosis Research Articles

Complete pachydermoperiostosis (Touraine–Solente–Gole Syndrome) in a young Yemeni man

Pachydermoperiostosis (PDP) is a rare genodermatosis, caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes, affecting the skin and bones. It is frequently misdiagnosed as acromegaly due to its presentation, which includes digital clubbing, bone thickening, and deep skin creases on the forehead. We report the first Yemeni case of PDP in a 22-year-old man who displayed classic features: digital clubbing, pachydermia (thickening of the skin) with furrowing on the forehead and scalp, bone thickening (hyperostosis) of the fingers, toes, radius, ulna, tibia, and fibula, as well as hyperhidrosis and seborrhea. Although acromegaly was initially considered, the absence of other typical features led to a final diagnosis of PDP. PDP should be considered in patients presenting with acromegaloid features.

Pachydermoperiostosis (Touraine-Solente–Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

Background: Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), also known as the Touraine–Solente–Gole syndrome, is a genetic disorder that is uncommon and is identified by finger clubbing, skin thickening, and periosteal growth. Case Report: This case study details the case of a 21-year-old man with PDP to raise awareness, improve diagnosis, and enhance management strategies for the condition. The individual showed common signs like digital clubbing, pachydermia, and periostosis, as well as related symptoms like hyperhidrosis. Radiological imaging supported the diagnosis by revealing periosteal reactions and cortical thickening in multiple bones. Other conditions with comparable clinical characteristics were considered in the differential diagnosis, however, the diagnosis of PHO was confirmed by the specific radiological results and normal hormonal levels. The treatment primarily targets alleviating symptoms with drugs like NSAIDs and corticosteroids, along with newer options such as bisphosphonates. Conclusion: Timely detection and correct treatment are essential to enhance the well-being of people with PHO. This case study emphasizes the significance of tracking symptoms and offering thorough care to those with PDP/PHO.

Pachydermoperiostosis Mimicking Inflammatory Arthritis: Case Description and Narrative Review

Pachydermoperiostosis (PDP), also called primary hypertrophic osteoarthropathy (HOA), is a rare genetic disease with typical thickening of the skin (pachydermia) and rheumatic manifestations, with clubbing of the fingers and toes and periostosis of the long bones visible on X-rays, as well as arthritis in large joints sometimes. Case: We describe a 23-year-old man with a complete form of PDP who presented with polyarthritis of the ankles and knees, with clubbing of the fingers and toes. He was treated with a non-steroidal anti-inflammatory drug (NSAID), etoricoxib, and with bisphosphonates (initially pamidronic acid i.v. and later oral risedronate 35 mg weekly). His joint pains and swelling disappeared, so that he could resume his daily activities. After eight years, the periostosis on the X-rays had disappeared. Discussion: The case is discussed, the literature regarding PDP is summarized and the differential diagnosis and treatment options are reviewed. Conclusions: PDP may present as polyarthritis. Clinicians should be aware of this diagnosis, as treatment is available and may improve the outcome of the patient. It is important to rule out secondary HOA due to pulmonary or cardiac disease, gastrointestinal malignancies and liver cirrhosis, especially when the dermatological findings are not typical. Further, acromegaly, thyroid acropachy and rheumatologic diseases should be excluded.

Complete pachydermoperiostosis with diffuse keratoderma mimicking thyroid Acropachy: A case report and review of literature

Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy. Cutaneous manifestations can be debilitating and constitute critical clues to formulating an accurate diagnosis. Palmoplantar keratoderma is a seldom reported manifestation of the disease hence, its significance as a phenotypic variant of pachydermoperiostosis is unknown. We describe a rare case of complete pachydermoperiostosis with diffuse palmoplantar keratoderma in a young African man presenting with hyperhidrosis, hyper-defecation and weight loss who had been previously misdiagnosed with thyroid acropachy. The aim is to provide a detailed clinical description of both common and unconventional features of this rare disease. Pachydermoperiostosis manifests with diverse genotypic and phenotypic characteristics that can mimic treatable, secondary causes of hypertrophic osteoarthropathy. Keratoderma and hyper-defecation are seldom reported manifestations that may represent unique variants of PDP. Awareness of characteristic dermatological manifestations of the disease can enhance early and accurate clinical diagnosis and prevent needless investigations.

Pachydermoperiostosis with Chronic Diarrhoea: A Case Report

Pachydermoperiostosis (PDP) is a rare autosomal disorder characterized by periostosis, clubbing, thickening of the skin (pachyderma) of the face and scalp, seborrhea and hyperhydrosis. It is the primary form of hypertrophic osteoarthropathy (HOA), the other name of which is Touraine- Solente-Golé syndrome. PDP has various organ involvements and there are some rare associations of PDP with other disorders. Here we describe a 16-year-old boy who presented with skin and skeletal manifestations typical of PDP who also had chronic diarrhea, abdominal pain and weight loss. After giving treatment with risedronate sodium and mesalazine he got significant improvement in his skeletal and abdominal complaints.
 Bangladesh Med J. 2021 Sept; 50(3): 52-55

Pachydermoperiostosis (Touraine–Solente–Gole syndrome) imitating Acromegaly: A Rare Case Report

Pachydermoperiostosis (PDP), also known as Touraine-Solente-Golé syndrome/Rosenfeld-Kloepfer syndrome/primary or idiopathic Hypertrophic osteoarthropathy, is an autosomal-dominant/autosomal recessive inherited disorder with variable expression. In its complete form, it is characterized by pachyderma (thickening of the facial skin), skeletal changes (periostosis), excessive sweating (hyperhydrosis), and acropachia (digital clubbing) and presents usually at puberty. At least two gene mutations have been implicated, namely 15-hydroxyprostaglandin dehydrogenase (15HPGD) and SLCO2A1. Clinical manifestations of PDP are thought to relate to excessive collagen formation and dysregulation of matrix proteins because of fibroblastic hyperactivation. Disease progresses for 5–20 years before stabilizing. We describe a case of 25 year old male who presented with thickened skin on the face and scalp (resembling cutis verticis gyrata), palmoplantar hyperhidrosis and clubbing.The patient required a close follow-up because of complications that might develop on the long-term.

Familial Incomplete Hypertrophic Osteoarthropathy: A Rare Disorder

Dear Editor, Hypertrophic osteoarthropathy is a condition in which there is abnormal proliferation of skin and soft tissue, particularly around the periosteal tissues. It is a very rare condition which is mainly described as two types, in which the common form is secondary hypertrophic osteoarthropathy caused by underlying disease and the rare primary idiopathic form. Here, we present a case of incomplete familial form of hypertrophic osteoarthropathy where a young male presented with multiple joint pains and Grade 4 clubbing and large patella. A 24-year-old male presented with multiple joint pains predominantly involving both knees, elbows, and shoulders. There was no history of any joint swelling or morning stiffness. There was no other history suggestive of connective tissue disorder. On examination, Grade 4 clubbing was present [Figure 1]. Systemic examination was unremarkable. Musculoskeletal (MSK) examination revealed a significantly large patella on both sides [Figure 1]. There were no signs of inflammation. On further probing, the patient gave a history of similar clubbing and joint pains for his sister, brother, and grandfather. His father also has similar complaints but with less severity (pedigree charting below mentioned) [Figure 2]. On investigations, blood counts and liver and kidney function tests were normal. C-reactive protein was negative. Thyroid profile was normal. To rule out acromegaly, growth hormone levels and magnetic resonance imaging brain were done which were normal. X-ray hands and both knees were done suggestive of periostosis. MSK ultrasonography of the knees was done suggestive of zigzag appearance of the patella [Figure 3]. A diagnosis of incomplete familial hypertrophic osteoarthropathy was made as there was no skin thickening and no coarse facial features and no other systems such as hematological or endocrine are involved. He was prescribed etoricoxib, and on follow-up, he was symptomatically better. Genetic testing was not done in our patient as he is not willing for that.Figure 1: Digital clubbing with large patellaFigure 2: Pedigree chart showing affected individuals in three generationsFigure 3: X-ray showing periosteal reaction involving the terminal phalanges, both bones of forearm, and long bones of lower limbs. USG image showing Zigzag appearance of the patella. USG: UltrasonographyPrimary or idiopathic form of hypertrophic osteoarthropathy is very rare and constitutes only 2%–3% of cases. It is inherited as autosomal dominant or recessive disorder, and it was thought to be caused by impaired metabolism of prostaglandin E2.[1] Pachydermoperiostosis is an another name given to this disorder due to the presence of coarse facial features with underlying thickening and furrowing of skin.[2] If both skin involvement and periosteal components are present then it is called complete form. The other two forms are incomplete with prominent periosteal with less skin involvement (like our case) and fruste form with more skin features and less periosteal features. The diagnostic criteria for PDP (pachydermo-periostosis) include major criteria and minor criteria. Major consists of pachyderma, periostosis, and finger clubbing and minor criteria includes hyperhidrosis, arthralgia, gastric ulcer, cutis verticis gyrata, blepharoptosis, joint effusion, edema, seborrhea, acne, and flushing.[3] Endocrine disorders like acromegaly, hypothyroidism, acropathy and other conditions like multifocal periostitis to be ruled out before labeling this condition. The other mimic of this condition is psoriatic onycho-pachydermo-periostitis except for the presence of psoriatic lesions.[4] Nonsteroidal anti-inflammatory drugs are the main stay of treatment as they act by blocking prostaglandin synthesis. They can have a good prognosis and normal life span.[5] Other treatment modalities available are corticosteroids, colchicine, or bisphosphonates.[6] Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

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 PDP can be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly.We report a patient with complete PDP.

043 Role of Prostaglandin E-major Urinary Metabolite Levels in Identifying The Phenotype of Pachydermoperiostosis

Pachydermoperiostosis (PDP) is an autosomal recessive hereditary disease, hat has three diagnostic features: digital clubbing, periostosis, and pachydermia including cutis verticis gyrata (CVG). CVG is a condition in which folds of the hypertrophic scalp skin create a cerebriform appearance. The phenotypic spectrum of PDP has been categorized to the complete and incomplete form depending on presence or absence of CVG respectively. Two causative genes: HPGD and SLCO2A1 have been identified. Prostaglandin E2 (PGE2) is metabolized to stable prostaglandin E-major urinary metabolite (PGE-MUM), and finally excreted in the urine as PGE-MUM.

Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.

Pachydermoperiostosis (PDP) is a genetic disease characterized by digital clubbing, periostosis, and pachydermia caused by mutated HPGD or SLCO2A1. Plasma prostaglandin (PG)E2 levels are increased in these patients. However, other eicosanoids have not been quantitated. We aimed to quantitate plasma eicosanoid levels in four patients carrying SLCO2A1 mutations by high-performance liquid chromatography-tandem mass spectrometry. PGE2 level was elevated in all patients; PGD2 and 11β-PGF2 α levels were also increased in some patients, whereas eicosapentaenoic acid, docosahexaenoic acid, and arachidonic acid levels were decreased in all patients. Our data indicate a dysfunctional eicosanoid homeostasis and varied levels of PG in patients with a complete form of PDP carrying SLCO2A1 mutations. PGE2 levels seem to mostly affect the symptoms, with other eicosanoids possibly having a minor effect.

Role of Prostaglandin E-Major Urinary Metabolite Levels in Identifying the Phenotype of Pachydermoperiostosis

Pachydermoperiostosis (PDP) is an autosomal recessive hereditary disease that has three diagnostic features: digital clubbing, periostosis, and pachydermia, including cutis verticis gyrata (CVG) (Castori et al., 2005). CVG is a condition in which folds of the hypertrophic scalp skin create a cerebriform appearance. The phenotypic spectrum of PDP has been categorized into three distinct forms. First, the complete form involves all the three major symptoms, including CVG. Second, the incomplete form has all the three symptoms but solely lacks CVG.

Pachydermoperiostosis: A Rare Masquerader of Acromegaly and Thyroid Acropachy

Background: Pachydermoperiostoasis is a rare disease of prostaglandin metabolism that presents with extensive clubbing, skin thickening, and enlargement of hands and feet, often misdiagnosed as acromegaly or thyroid acropachy. Clinical Case: A 29-year-old male presented with progressive enlargement of hands and feet for the past three years, with increased sweating, seborrhea, acne, arthralgia, and photophobia. On examination, facial furrowing and severe clubbing in all fingers and toes was noticed, with palmoplantar hyperhidrosis, tenderness and widening around distal forearms, and increased heel pad thickness. He had nodulocystic acne, injected right eye with ptosis, normal pupil, and visual field. Slit-lamp examination showed extensive pannus formation, with yellow nodules, suggestive of phlyctenular conjunctivitis, secondary to a systemic inflammatory process. No prominent supraorbital ridge, prognathism, proptosis, goiter, or pretibial myxedema. No family history of a similar condition. Labs showed normal cell counts and metabolic panel. Normal IGF-1 (112 ng/mL, n 84-250 ng/ml), TSH (3.82 mIU/L, n 0.27-4.2 mIU/L), fT4 (1.19 ng/dL, n 0.93-1.7 ng/dL), Testosterone (354 ng/dL, n 249-836 ng/dL) and Prolactin (15.2 ng/mL, n 2.1-17.7 ng/mL). Inflammatory markers were elevated with ESR of 54 mm/hr (n 0-15 mm/hr) and CRP of 12.45 mg/L (n 1-4 mg/L). ANA, RF, anti-CCP, and HLA-B27 were negative. C3 and C4 levels were normal as well. Interferon-gamma release assay was negative. Imaging showed a normal chest X-ray. Brain MRI showed normal pituitary gland and increased scalp skin thickness with cutis verticis gyrata “undulating skin sign.” X-ray of hands and feet showed diffuse periosteal reaction. A diagnosis of pachydermoperiostosis (PDP) was made based on clinical criteria (thickened skin, periosteal reaction, and finger clubbing). PDP is a genetic disorder of prostaglandin metabolism with variable expression and incomplete penetrance. It manifests after puberty and affects males more than females with a 7:1 ratio. PDP has been recently shown to go through an inflammatory phase, in which patients may benefit from immunosuppressants or NSAIDs. PDP should be distinguished from hypertrophic pulmonary osteoarthropathy, thyroid acropachy, and acromegaly. Our patient had a normal chest radiograph and normal hormone levels (TSH, T4, and IGF-1). The patient received topical steroids and antibiotics with artificial tears for his eyes, which resulted in a good response, and was referred to a rheumatology clinic for further management. Clinical Lesson: PDP can be mistaken for acromegaly or thyroid acropachy and should be considered in any patient with acromegaloid features with normal IGF-1 and no evident pituitary pathology. Awareness of this condition can help in reaching the diagnosis promptly.

Age in a furrow: Forehead rhytidectomy in a 27-year-old male with pachydermoperiostosis

Age in a furrow: Forehead rhytidectomy in a 27-year-old male with pachydermoperiostosis

Pachydermoperiostosis: A Rare Genetic Disorder

Pachydermoperiostosis (PDP) is a rare genetic disorder. Finger clubbing, skin changes and bony changes are the main three features of it. Here we present a 26-year-old male patient who was admitted for some other neurological disorder and diagnosed clinically as PDP. We diagnosed the condition clinically as gene analysis is not available in Bangladesh for a confirm diagnosis.Birdem Med J 2018; 8(2): 181-183

Comprehensive Surgical Strategies for the Management of Pachydermoperiostosis.

The cosmetic and functional deformities induced by thickened folds and furrows are the main complaints of patients in pachydermoperiostosis (PDP). However, traditional drug therapy only has a limited effect for its unclear genetic pathogenesis. Surgical treatment has now become one of the optimal strategies mainly aiming for its cosmetic improvement. Here we describe a comprehensive management of PDP approached with surgical procedure thereby showing markedly improved cosmetic outcome. Experientially, the surgical treatment of PDP is effective and may be preferentially recommended for PDP patients especially of severe degree.

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.

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.

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.

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.