Otolaryngology–Head and Neck Surgery (2006) 135, 168-169
Gradual nose enlargement: Pachydermoperiostosis Fı˙kret Çı˙nar, MD, Sanı˙ye Çı˙nar, MD, and Nı˙lgün Tekı˙n, MD, Zonguldak, Turkey
achydermoperiostosis, also known as the Touraine-Solente-Golé syndrome, is characterized by thickening of the skin in folds, clubbing of the fingers, and periostosis of the long bones.1 It may be associated with additional features such as thickening of the ears and enlargement of the tongue. Coarsening of the facial features may lead to acromegalic facies. The scalp may be thickened and show cutis verticis gyrata that is characterized by the formation of furrows that resemble cerebriform pattern. We report a case of pachydermoperiostosis with an unusual presentation: gradual nose enlargement. A 21-year-old man presented to our department with complaint of gradual swelling of the nose. The patient had been in excellent health until 18 months earlier when he began to have nasal enlargement and headache that gradually worsened. He denied any nasal obstruction, rhinorrea, or epistaxis. Externally, he had a large nose (Fig 1A). Endoscopic examination of the nose revealed patent nasal passages bilaterally. No localized mass was palpated in the nasal dorsum except a grossly thickened skin. There was no tenderness to palpation and no discoloration over the skin. Further examination of the head and neck revealed no abnormalities except scalp lesions resembling the sulci of the brain (Fig 1B). A radiograph of the nose showed soft-tissue expansion around the nasal bones. The patient was referred to the dermatology and physiotherapy departments because of scalp lesion and pain in joints of the hand. Physical examination revealed clubbing of the fingers. CT scan and chest radiograph were normal as were laboratory examinations including complete blood count, plasma glucose, growth hormone, and thyroid function tests. Radiologic examination showed periosteal new bone formation in the distal ends of the ulna, radius, and phalanges. Biopsy of the skin showed superficial hyperkerFrom the Departments of Otolaryngology–Head and Neck Surgery (Dr Çı˙nar); and Dermatology (Drs Çı˙nar and Tekı˙n); School of Medicine, Zonguldak Karaelmas University. Reprint requests: Assistant Professor Dr Fı˙kret Çı˙nar, MD, Zonguldak
atosis, acanthosis, and collections of fibrocytes. There was no family history of this case. Therefore, the definitive diagnosis was primary sporadic pachydermoperiostosis. We believed it was useless to submit the patient to an extensive surgical procedure.
DISCUSSION Nasal height and nasal bridge length became fully mature in males at 15 years and fully mature in female at 12 years.2 Gradual enlargement of the nose after puberty is a rare complaint that may present the otolaryngologist with challenges in evaluation. The initial differential diagnosis of a wide nose includes traumatic, developmental, endocrine, and neoplastic processes. ˙It is well-known that after a trauma, some consequences such as fracture of the nasal bones or formation of hematoma may lead to enlargement of the nose. Imaging studies demonstrate easily the characteristic findings of these conditions. Nasal dermal sinus cysts, encephaloceles, and gliomas are the most common congenital masses that can occur intranasally or extranasally at the bridge of the nose.3 These entities are extremely rare in adults and the diagnosis is facilitated also by CT or MRI. Given the age of our patient and the multisystem involvement, an endocrine disorder was probable. Acromegaly and hypothyroidism are the 2 most common conditions that may present with enlarged nose and tongue. Patients with acromegaly exhibit enlargement of all parts of orofacial bones except maxilla.4 Laboratory examinations for the detection of these endocrine diseases may yield positive results. Neoplastic conditions of the nose such as squamous cell carcinoma, fibrosarcoma, and hemangioma can cause external swelling with associated bone destruction. In advanced Karaelmas University, School of Medicine, Otolaryngology–Head and Neck Surgery Department, Kozlu, 67600 Zonguldak, Turkey. E-mail address: [email protected]
0194-5998/$32.00 © 2006 American Academy of Otolaryngology–Head and Neck Surgery Foundation. All rights reserved. doi:10.1016/j.otohns.2005.03.037
Çı˙nar et al
Gradual nose enlargement: Pachydermoperiostosis
disease, the polyps too can be seen with widening of the external nose, sometimes with bone remodeling and destruction. Rhinophyma, an advanced form of acne rosacea, is the nasal deformity characterized by grossly thickened and vascular skin epitelium. The tip of the nose is always wide and bulbous in this entity. The gross appearance of the nose in the presented case was explained by the dermal thickening. On radiologic examination of the nose, there was no bone changes. In the literature we did not found any case of pachydermoperiostosis presented first to the otolaryngology department because of a nose enlargement complaint. Pachydermoperiostosis is an inherited disorder characterized by hypertrophied skin changes, periostal new bone formation, clubbing, and family history. Symptoms usually appear around puberty and the male to female ratio is 9/1. The treatment consists of the surgical excision of the excessive skin. Some cases of pachydermoperiostosis have been associated with nasopharyngeal carcinoma, bronchogenic carcinoma, and myeloid leukemia.5 When such an association occurs, the enlargement of the tongue and the nose may antedate the recognition of the occult tumor. This case was presented to accentuate the differential diagnosis of an unusual nasal symptom such as gradual enlargement of the nose.
Figure 1 (A) Photo of enlarged nose of the patient. (B) Photo of scalp of patient shows cutis verticis gyrata.
1. Berger TG, Odom RB, James WD. Andrews’ diseases of the skin: clinical dermatology, 9th ed. Philadelphia: W.B. Saunders Co; 2000. p. 724-6. 2. Akguner M, Barutcu A, Karaca C. Adolescent growth patterns of the bony and cartilaginous framework of the nose: a cephalometric study. Ann Plast Surg 1998;41:66 –9. 3. Chang KC, Leu YS. Nasal glioma: a case report. Ear Nose Throat J 2001;80:410 –1. 4. Dostolova S, Sonka K, Smahel Z, et al. Cephalometric assessment of cranial abnormalities in patients with acromegaly. J Craniomaxillofacial Surg 2003;31:80 –7. 5. Oikarinen A, Palatsi R, Kylmaniemi M, et al. Pachydermoperiostosis: analysis of the connective tissue abnormality in one family. J Am Acad Dermatol 1994;31:944 –53.