Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome

Keloids are non-malignant mesenchymal tumours which develop in genetically susceptible individuals as a result of various injuries, and they are the result of disorders in the wound healing process [1–5]. The clinical image presents vivid red or even brown tumour-like le-sions. Their density is much higher than that of the surrounding skin since they contain mostly collagen fibres. The lesions are clearly visible, and in the peripheral area there are characteristic processes. The lesions are mostly located in seborrhoeic regions: the chest in the sternum area, back, arms, earlobes and neck. Keloids tend to occur most frequently in association with some of the genetic diseases of connective tissue like Rubinstein-Taybi syndrome [1–7]. Rubinstein-Taybi syndrome (RSTS, OMIM 180849) is characterized by mental retardation (IQ index is usually between 35 and 50) and physical abnormalities such as broad thumbs and halluces, short stature, microcephaly and facial dysmorphia (beaked nose, hypoplastic maxilla, down-slanting palpebral fissure). Other physical findings may include eye anomalies (ptosis of the eyelids, obstruction of a nasolacrimal duct, refractory problems), congenital heart defects, joint hypermobility and some skin problems such as high susceptibility to keloid formation and hypertrichosis. Patients with RSTS are prone to develop brain tumours (meningioma) and leukaemia before the age of 15 [6, 8, 9]. The birth prevalence of RSTS is 1 in 100 000 to 125 000, and the diagnosis is essentially based on the clinical manifestation; however, evaluation for a microdeletion at chromosome 16p13.3 and mutations in the CREBBP or p300 gene is helpful in diagnosis. The pattern of inheritance is autosomal dominant with variable expression, and most frequently de novo mutations occur [6, 8–10]. We present a case of a 16-year-old boy hospitalized in our clinic in September 2011 with multiple large keloids on the upper chest, arms, neck, legs and on the earlobe (Figure 1). The first keloids appeared in Jan-uary 2011 as a complication of a severe form of acne, despite treatment with several oral antibiotics and finally 20 mg/day of isotretinoin until July 2010. The dynamics of the appearance of keloids were exceptional in this case. The susceptibility to keloid formation was extremely strong in our patient, who had more than 100 large, protuberant and disseminated keloids in the typical seborrhoeic regions as well as on the lower limbs. Apart from numerous keloids, the patient presented short stature and low body mass (164 cm/52 kg < 3 rd percentile), malformation of …