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Advances in dermatology and venereology Acta Dermato-Venereologica
Facial Manifestations of Pachydermoperiostosis Treated with Botulinum Toxin Type-A: Report of 3 Cases
Xiang WEN 1 – 3, Yong LI 1, Michael R. HAMBLIN 2 – 4 and Xian JIANG 1 *
1
Department of Dermatology, West China Hospital of Sichuan University, Chengdu, Sichuan, China 610041, 2 Wellman Center for Photomedicine, Massachusetts General Hospital, 3 Department of Dermatology, Harvard Medical School, Boston, and 4 Harvard-MIT Division of Health Sciences and Technology, Cambridge, USA. E-mail: Jennyxianj @ 163. com Accepted Feb 20, 2017; Epub ahead of print Feb 22, 2017
Pachydermoperiostosis( PDP) or primary hypertrophic osteoathropathy( PHO)( also known as Touraine-Solente- Golé syndrome; OMIM 167100) is a rare genetic disease involving formation of periosteal new bone, clubbing of the digits, enlargement of joints, arthralgias and hypertrophic skin changes, especially on the face, forehead, and scalp. PDP may also display additional symptoms such as seborrhea, hyperhidrosis and hypertrophic gastritis( 1 – 3).
PDP is a chronic condition that, while not life-threatening, decreases the patient’ s quality of life. Among other clinical manifestations, the thickened skin of the upper third of the face gives a leonine appearance to the face( 4). We report here 3 cases of PDP that were treated by injections of botulinum toxin type A( BTX-A). To the best of our knowledge, this is only the third report describing the use of BTX-A for treatment of PDP, and the first in which a patient( Case 1) received a course of several injections.
CASE REPORTS
The clinical features of the three patients are summarized in Table SI 1. All patients signed informed consent and granted permission to publish these images and information about their cases. Our treatment strategy was designed to achieve a visible improvement in the facial appearance with BTX-A( Botox, Allergan INC., Ireland)( Fig. S1 1). A 4-point facial wrinkle scale( FWS)( 5)( 0 = none, 1 = mild, 2 = moderate, and 3 = severe) was used to assess wrinkle severity in relaxation at baseline, week 4 and week 16.
The facial examination of patient 1 revealed oily, thickened skin with significant vertical glabellar furrows. BTX-A was injected into the relevant muscles. The patient was followed up at 2, 4, 8 and 16 weeks after the injection. The patient was classified as a responder at weeks 4 with good improvement( Fig. 1a, b). It was noted that the improvement started within the first week after treatment, and culminated between weeks 4 and 8. He underwent another 3 sets of treatments with the same dose injected at 16-week intervals; the results continued to be promising at each followup. There were no adverse events reported throughout the entire course of injections.
An examination of patient 2 disclosed that the eyelids were considerably thickened and enlarged; the palpebral apertures were reduced to 5 mm bilaterally. His visual acuity was impaired while other ocular examinations were within normal limits. He had significant thickened skin on the forehead and glabellar region with furrowing. Injections of BTX-A were administered. One week after the injection, the patient reported an exacerbation of
1 https:// www. medicaljournals. se / acta / content / abstract / 10.2340 / 00015555-2645
Fig. 1. Patients before and after treatment.( a) Significant vertical glabellar furrows at presentation in patient 1.( b) 4 weeks after treatment with BTX-A.( c) Significantly thickened skin on the eyelids and forehead with furrowing at presentation in patient 2.( d) 1 week after treatment with BTX-A, showing exacerbation of the eyelid ptosis that caused difficulty in opening the eyes.( e) Facial enlargement with deep folds in the skin of the forehead and glabellar region and acne vulgaris on the forehead in patient 3.( f) 4, weeks after treatment with BTX-A.
the eyelid ptosis that caused difficulty in opening his eyes( Fig. 1c, d). An excellent response in his forehead was noted. Upon visual examination, he had significant ptosis with a margin to reflex distance of 1 mm in the right eye and 2 mm in the left. The levator palpebrae superioris muscle function was poor. The patient rejected any medication, and he reported that the eyelid ptosis was the same as before treatment by week 6.
Patient 3 presented with facial enlargement with deep folds in the skin of the forehead and glabellar region. Several papules, pustules and nodules on his forehead were noted and diagnosed as acne vulgaris. The injection sites and doses in the glabellar region were the same as case 1; 5 intradermal injections along the forehead were given using 2 U each. He tolerated the procedure well and the results were noted to be satisfactory at weeks 2, 4, and 16( Fig. 1e, f). Surprisingly his acne improved without any additional medication.
DISCUSSION
A genetic defect in either HPGD or recently solute carrier organic anion transporter family member 2A1( SLCO2A1) gene is responsible for PDP. Impaired metabolism of PGE2 is considered as pathogenia in PDP( 2, 6). The diagnosis of PDP is straightforward when all
This is an open access article under the CC BY-NC license. www. medicaljournals. se / acta Journal Compilation © 2017 Acta Dermato-Venereologica. doi: 10.2340 / 00015555-2645 Acta Derm Venereol 2017; 97: 761 – 762