Acta Dermato-Venereologica 98-8CompleteContent | Page 25

807 SHORT COMMUNICATION Restrictive Dermopathy: Four Case Reports and Structural Skin Changes Mona BIDIER 1# , Mareen SALZ 1# , Jochen MEYBURG 2 , Adelheid ELBE-BÜRGER 3 , Felix LASITZSCHKA 4 , Ingrid HAUSSER 4 and Knut SCHÄKEL 1 Department of Dermatology, 2 Centre for Child and Adolescent Medicine, Divisions of General Pediatrics, Neuropediatrics, and Metabolic Medicine and 4 Institute of Pathology, University Hospital, Im Neuenheimer Feld 440, DE-69120 Heidelberg, Germany, 3 Department of Dermatology, Division of Immunology, Allergy and Infectious Diseases (DIAID), Medical University of Vienna, Vienna, Austria. E-mail: mona. [email protected] # Both authors contributed equally. 1 Accepted May 17, 2018; Epub ahead of print May 18, 2018 We report here 4 patients with restrictive dermopathy (RD) who presented in the paediatric and dermatology department of the University of Heidelberg from 1996 until 2017. All of the patients were premature infants dis- playing the pathognomonic clinical picture of RD: tense, vulnerable and translucent skin, superficial erosions, joint contractures, reduced motoricity and a typical facies with a small pinched nose, mouth fixed in an o-position, low- set ears and micrognathia (Fig. 1). Skin biopsies for light and electron microscopy showed collagen bundles paral- lel to the skin surface and a hypoplasia of appendages as common pathological findings. In 2 biopsies, the collagen fibres were small and in 3 of the 4 patients the rete ridges were flattened and elastic fibres were reduced or arranged in tiny clumps (Fig. 2b). All 4 babies developed respiratory insufficiency and died between days 6 and 32 after birth. (For more detailed information on each case see Table SI 1 ). RD has a pathognomonic phenotype; however, the underlying structural skin changes remain to be defined. Fig. 1. Clinical presentation. The patient’s skin appeared tense, vulnerable and translucent with clearly visible vessels, scaling and erosions (case 1). In addition, the joints were contractured and the patient showed a reduced motoricity. There were typical facial dysmorphies: hypertelorismus, a small nose, low-set ears, micrognathia, and a small round open-mouth fixed in the o-position Permission is given by the parents to publish these photos. https://www.medicaljournals.se/acta/content/abstract/10.2340/00015555-2970 1 Fig. 2. Structural skin changes in restrictive dermopathy (RD). Healthy newborn skin (a, c, e, g) and skin samples from a patient with RD (b, d, f, h) were studied. By light microscopy (10×), the epithelium in the skin sample from the patient with RD was slightly acanthotic and showed mild orthohyperkeratosis (b). The rete ridges were flattened, and the appendages were rudimental, whereby the hair shafts in some sections were without pathological findings, in others they were slightly rarified. The thickness of the corium was reduced. Electron microscopy of skin sections of a patient with RD (10,000×) (h) in contrast to healthy skin (9,000×) (g) showed many closely lying collagen bundles and few underdeveloped elastic fibres. Immunohistochemical staining identified elastin expression in skin tissue of (c) a healthy newborn 1 day old (20×). In skin tissue of a newborn with RD (patient 4), age 2 days (gestational age: 29+5 weeks), elastin expression presented with a diffuse dermal distribution of the fibres (20×) (d) (anti-elastin antibody, Abcam (ab21610)). Fibulin expression in skin of a healthy newborn 1 day old (e) was readily detectable, while there was little evidence for fibulin expression (20×) (f) in skin tissue of a newborn with RD (patient 4), 2 days old (gestational age: 29+5 weeks) (anti-fibulin 1 antibody, Abcam (ab54652)). This is an open access article under the CC BY-NC license. www.medicaljournals.se/acta Journal Compilation © 2018 Acta Dermato-Venereologica. doi: 10.2340/00015555-2970 Acta Derm Venereol 2018; 98: 807–808