|Year : 2022 | Volume
| Issue : 1 | Page : 61-63
Complete form of pachydermoperiostosis in a 16-year-old boy: A case report
Sahana M Srinivas1, Suman Swamynathan1, Vani Hebbal Nagarajappa2, Raghupathy Palany2
1 Department of Pediatric Dermatolog, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
2 Department of Pediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
|Date of Submission||29-May-2021|
|Date of Acceptance||18-Oct-2021|
|Date of Web Publication||31-Dec-2021|
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka,
Source of Support: None, Conflict of Interest: None
Pachydermoperiostosis is an inherited osseocutaneous disorder. The unusual increased levels of prostaglandin E2 due to mutations in either HPGD gene or SLCO2A1 gene are regarded as the causative factor. Our case report is about a 16-year-old boy who presented with cutis verticis gyrata, clubbing of digits, arthralgia, seborrhea, acne vulgaris, blepharoptosis, macrocheilia, column-like legs, and periosteal thickening in all long bones of the extremities characteristic of complete form of pachydermoperiostosis. No effective treatment has been proposed for this condition. Hence, counseling the child and parents about the disease progression, detecting the complications, and efficaciously managing them will be the mainstay of the treatment.
Keywords: Clubbing of digits, pachydermoperiostosis, prostaglandin E2, Touraine–Solente–Gole syndrome
|How to cite this article:|
Srinivas SM, Swamynathan S, Nagarajappa VH, Palany R. Complete form of pachydermoperiostosis in a 16-year-old boy: A case report. Indian J Paediatr Dermatol 2022;23:61-3
|How to cite this URL:|
Srinivas SM, Swamynathan S, Nagarajappa VH, Palany R. Complete form of pachydermoperiostosis in a 16-year-old boy: A case report. Indian J Paediatr Dermatol [serial online] 2022 [cited 2022 Jan 16];23:61-3. Available from: https://www.ijpd.in/text.asp?2022/23/1/61/334679
| Introduction|| |
Pachydermoperiostosis is a rare genodermatosis characterized by pachyderma, periostosis, and clubbing of digits. It was first described by Friedreich in 1868. The prevalence of this condition is 0.16%, occurring more commonly in men, where the male-to-female ratio is 7:1., It is inherited either as an autosomal dominant, autosomal recessive, or X-linked pattern. The mutation analysis unwraps HGPD gene or SLCO2A1 gene as the pathology. The clinical manifestations appear to be gradually progressive for certain years after onset and stabilization thereafter. The treatment aspect focuses on relief of symptoms rather than treating the exact cause. We report the case of a 16-year-old boy who presented with characteristic features of pachydermoperiostosis.
| Case Report|| |
A 16-year-old Bangladeshi boy, born of non-consanguineous marriage, presented to our outpatient department with a 2-year history of progressive thickening of the skin over the face, associated with swelling of the hands and feet, arthralgia, and excessive sweating. There was no history of cyanosis, joint swelling, respiratory and cardiac-related symptoms or history of sudden weight loss or weight gain. Family history was noncontributory. He had normal developmental milestones and was intellectually normal. General physical examination revealed a prominent facial expression, bilateral blepharoptosis, macrocheilia, clubbing of fingernails, widening of wrists and ankles, broad hands and feet, and bilaterally symmetrical cylindrical appearance of lower limbs. Anthropometric measurements such as height and weight were 164.1cms and 54kgs respectively and both were under the normal percentiles according to growth chart. The vital signs were also under normal limits. On cutaneous examination, there were yellow-to-white greasy scales on the scalp and face, pronounced deep skin folds on the scalp and forehead (cutis verticis gyrata), pachyderma of the face, upper limbs, and lower limbs, and few tiny papular lesions over the face (acne) [Figure 1] and [Figure 2]. The palms and soles appeared velvety due to palmoplantar hyperhidrosis. Oral mucosa and hair distribution were normal. Sexual maturity rating was pubertal. Systemic examination was normal.
|Figure 1: Cutis verticis gyrata, blepharoptosis, macrocheilia, and acne vulgaris present over the face|
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Laboratory investigations such as complete hemogram, urine analysis, liver and renal function tests, serum uric acid, serum calcium, blood sugars, and thyroid function tests were within normal limits. Rheumatoid factor and antistreptolysin O titer were negative. The skeletal survey showed periosteal thickening in the bones of the hands, forearms, and legs, but the skull X-ray appeared normal [Figure 3] and [Figure 4]. Two-dimensional echocardiography, magnetic resonance imaging of the brain, and ultrasonography of the abdomen were normal. Genetic analysis could not be carried out as the family was not willing due to financial constraints. Based on the history, clinical features, and investigations, diagnosis of pachydermoperiostosis was made. The patient and the parents were counseled.
|Figure 3: Periosteal thickening present in the phalanges, metacarpals, radius, and ulna of both forearms|
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|Figure 4: Periosteal thickening present in the tibia and fibula of both legs|
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| Discussion|| |
Pachydermoperiostosis is an uncommon genetic disorder that becomes apparent due to abnormal proliferation of the skin and bone tissue. It accounts for 3%–5% of primary hypertrophic osteoarthropathy. In 1935, Tourine et al. computed this condition as a familial disorder and classified into three different forms: the complete form with pachyderma and periostosis, incomplete form with only periostosis, and the forme fruste with pachyderma and minimal skeletal changes. Hence, pachydermoperiostosis also earns another nomenclature, called Touraine–Solente–Gole syndrome. An infantile form with enlargement and delayed closure of cranial sutures, patent ductus arteriosus, and cutaneous features of this disorder have also been described. Rosenfeld–Kloepfer syndrome, Currarino idiopathic osteoarthropathy, and localized form with radiographic features only in the legs are considered to be some of the variants of pachydermoperiostosis.
Mutations in HPGD gene encoding for 15-hydroxyprostaglandin dehydrogenase and SLCO2A1 gene coding for prostaglandin transporter were identified in patients presenting with pachydermoperiostosis. The HGPD gene mutation was present equally in affected males and females and had an autosomal recessive pattern of inheritance, however, the SLCO2A1 gene defects were more common in the affected males, with disease onset peaking at puberty and presenting with autosomal dominant inheritance pattern.
The defect in HPGD gene and SLCO2A1 gene causes abnormalities in catabolism of prostaglandin E2 (PGE2) and defective uptake of PGE2, respectively. Therefore, the elevated levels of PGE2 lead to cytokine-mediated remodeling of the tissues, vascular stimulation, increased proliferation of collagen fibers, increased synthesis of decorin protein, and dysregulation of matrix deposits., This in turn causes increased proliferation of fibroblasts in the dermis leading to coarse appearance of the skin. The ocular features include blepharoptosis, floppy eye syndrome, and ocular discomfort. In the skeletal tissue, periosteal reaction classically occurs in the long bones and phalanges, sparing the marrow and soft tissue adjacent to the reaction. Initially, the pathology manifests in diaphysis followed by metaphysis and later progresses to the epiphysis. The bone and joint involvement manifests as arthritis, arthralgia, acro-osteolysis, periosteal new bone formation, subperiosteal ossification, and osteoporosis. As the disease progresses, complications such as ptosis, compression of nerve endings, difficulty in hearing, kyphosis, arthrosis, osteonecrosis of the femoral head, and carpal tunnel syndrome can be encountered.
The diagnostic criteria of pachydermoperiostosis comprise major criteria: pachyderma, periostosis, and finger clubbing and minor criteria: hyperhidrosis, arthralgia, gastric ulcer, cutis verticis gyrata, blepharoptosis, joint effusion, column-like legs, edema, seborrhea, acne, and flushing.
The conditions such as facial epidermoid carcinoma, hypertrophic gastritis, peptic ulcer, gastric adenocarcinoma, Crohn's disease, and myelofibrosis are few of the numbered associations with this inherited disorder. The child in our case fulfilled the major criteria and most of the minor criteria proposed for pachydermoperiostosis. The hormonal work-up, two-dimensional echocardiography, magnetic resonance imaging of the brain, and ultrasonography of the abdomen distinguished our case from secondary cause hypertrophic osteoarthropathy. Urinary levels of PGE2 and genetic analysis which would have further aided to the diagnosis could not be carried out in our case.
The importance of treatment sheds a light on counseling the parents regarding the disease course and its complications and effectively managing the symptoms. Arthralgia and arthritis improve with nonsteroidal anti-inflammatory agents, corticosteroids, tricyclic antidepressants, and colchicine. Bisphosphonates can halt the bone remodeling and prevent further damage. The facial texture can be improved with frontal facelift procedures and botulinum toxin administration. The ocular symptoms can be relieved by blepharoplasty, resection of eyelids, and reinsertion of aponeurosis of the upper eyelid. Etoricoxib has been recently found to improve the coarseness of the face and arthritis.,,
| Conclusion|| |
Pachydermoperiostosis can present from birth to adulthood. It should be differentiated from secondary causes of hypertrophic osteoarthropathy, scleromyxedema, thyroid acropachy, and acromegaly. A thorough work-up is important to ascertain the diagnosis, and symptoms have to be constructively managed to improve their quality of life. Our case presented here is a complete form of pachydermoperiostosis.
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
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]