Acta Dermato-Venereologica 99-10CompleteContent | Page 24

917 SHORT COMMUNICATION Dowling-Degos Disease and Hidradenitis Suppurativa. Epidemiological and Clinical Study of 15 Patients and Review of the Literature Eugenia AGUT-BUSQUET 1 , Iris GONZÁLEZ-VILLANUEVA 2 , Jorge ROMANÍ DE GABRIEL 1 , Jose Carlos PASCUAL 2 , Miquel RIBERA PIBERNAT 1 and Jesús LUELMO 1 Department of Dermatology, University Hospital Parc Tauli of Sabadell, Autonomous University of Barcelona, Barcelona, Spain, and Department of Dermatology, Alicante University General Hospital, Alicante Institute for Health and Biomedical Research (ISABIAL-FISABIO Foundation), Alicante, Spain. E-mail: [email protected] 1 2 Accepted May 22, 2019; E-published May 23, 2019 Dowling–Degos disease (DDD), or reticular pigmented anomaly of the flexural surfaces, is a rare autosomal do- minant genetic pigmentation disorder (1). DDD occurs more frequently in women and lesion onset is usually after puberty. DDD clinically presents as an acquired dot-like or reticular hyperpigmentation of the skinfolds, depressed pitted scars in the periorbital region and pinpoint papules with keratin plugs in the palmar, axillary, cervical, perioral and gluteal regions, with a characteristic histopatho- logy (2). The differential diagnosis includes acanthosis nigricans, Naegeli-Franceschetti-Jadassohn syndrome, confluent and reticulated papillomatosis, Galli-Galli disease, Haber syndrome, reticulate acropigmentation of Kitamura and Dohi, dyschromatosis symmetrica universa- lis hereditaria and other dyskeratotic syndromes. In 2006 it was established that mutations in KRT5, POFUT1 and POGLUT1 are implicated in DDD (3, 4). Hidradenitis suppurativa (HS) is a chronic recurrent inflammatory disease with a multifactorial aetiopathoge- nesis. Abnormalities in the innate immune system promote a maintained high-grade inflammatory state in response to keratin, corneocytes, bacteria and sebaceous material that is extruded when a pilosebaceous unit is disrupted (5). DDD has been associated with conditions such as in- fundibular cysts, keratoacanthomas (6) and squamous cell carcinoma (7), while the co-occurrence of DDD with HS has only been reported in 6 unique clinical cases (2, 6–8). We report epidemiological and clinical characteristics for a cohort of 15 patients with DDD, concomitantly affected by HS, who attended the Dermatology Services of Alicante Hospital and Sabadell Hospital between 2015 and 2017. bolic syndrome, hypertension, diabetes mellitus, dyslipidaemia and pilonidal sinus were reported in a minority of patients (27%, 20%, 20%, 27% and 20%, respectively). Smokers accounted for 80% of the patients and 53% of the patients were overweight, with a mean BMI of 27.93. Clinical exploration revealed the patients to have clinical fin- dings suggestive of DDD (Fig. 1). Hair and nails were normal. To confirm the diagnosis of DDD, a punch biopsy was performed in all the patients in either the axilla or the major abdominal flexure (Fig. S1 1 ). Active acne, nodules, abscesses and sinus tracts were observed in 46.66%, 100%, 80% and 33.33% of the patients, re- spectively. The involved body parts were mainly axillae (100%), groin (93%), nape and back (66.66% each) and gluteal and pubic areas (53.33% each). Infundibular cysts (mean count 6.67) were observed in 14 patients. The most common Hurley stage was II (47%). Mean IHS4 was 9.7. Regarding the management, during the 2 years of follow-up, over half the patients (53%) received more than 2 types of treat­ ment: 46% received rifampicin 300 mg b.i.d plus clindamycin 300 mg b.i.d for 12 weeks, followed by a maintenance therapy consisting of topical application of either a 1% clindamycin so- lution or a 15% resorcinol solution 3 times a week; while 40% received either sulfone 50 mg b.i.d or acitretin 25 mg q.d; and 13.33% received adalimumab 40 mg/week. https://www.medicaljournals.se/acta/content/abstract/10.2340/00015555-3225 1 MATERIAL AND METHODS AND RESULTS Approval for the study was obtained. Data gathered from the medical records included epidemiological characteristics, clinical information (including Hurley Stage and International Hidradenitis Suppurativa Severity Score System (IHS4) (9)) and treatment information. Results for categorical variables were expressed as absolute frequencies and percentages. Descriptive statistics for continuous variables were expressed as means  ±  standard deviations (SD). Statistical tests were carried out using SPSS version 22.0. The retrospectively reviewed cohort of 15 patients included 8 men (53%) and 7 women (47%). Mean  ±  SD age was 43.27  ±  12.36 years. All patients reported a family history of HS and 60% re- ported a family history of DDD. Mean  ±  SD age of onset for HS was 15.60  ±  3.69 years. Mean age of evolution was 27.67  ±  14.61 years. A history of acne was reported in 7 patients (47%). Meta- Fig. 1. Clinical images. a) Patient #13. Symmetrically distributed hyperpigmented macules with a reticular disposition affecting the perineal area. Note the 2 nodules and the non-draining fistula. b) Patient #13. Comedon-like infundibular cysts and follicular plugging. c) Patient #14. Typical DDD hyperpigmented macules in major skinfolds. Note the inflamed abscess in the perineal area. d) Patient #14. Note the non-inflammatory nodules in the right axillae, hyperpigmentation and multiple double- comedon openings. This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2019 Acta Dermato-Venereologica. doi: 10.2340/00015555-3225 Acta Derm Venereol 2019; 99: 917–918