ABSTRACT
Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD-HS). However, molecular alterations in DDD-HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD-HS, one of those, under Adalimumab treatment. Our results have shown downregulation of NOTCH1/NCSTN pathway, distinct molecular profiles of inflammatory cytokines (IL23A and TNF), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (SPRR1B, SPRR2D, SPRR3, and IVL) in paired HS lesions of two DDD patients.
Subject(s)
Cytokines/metabolism , Gene Expression Regulation , Hidradenitis Suppurativa/pathology , Hyperpigmentation/pathology , Inflammation Mediators/metabolism , Receptor, Notch1/metabolism , Skin Diseases, Genetic/pathology , Skin Diseases, Papulosquamous/pathology , Adult , Amyloid Precursor Protein Secretases/genetics , Amyloid Precursor Protein Secretases/metabolism , Cornified Envelope Proline-Rich Proteins/genetics , Cornified Envelope Proline-Rich Proteins/metabolism , Female , Hidradenitis Suppurativa/complications , Hidradenitis Suppurativa/genetics , Hidradenitis Suppurativa/metabolism , Humans , Hyperpigmentation/complications , Hyperpigmentation/genetics , Hyperpigmentation/metabolism , Membrane Glycoproteins/genetics , Membrane Glycoproteins/metabolism , Middle Aged , Prognosis , Receptor, Notch1/genetics , Skin Diseases, Genetic/complications , Skin Diseases, Genetic/genetics , Skin Diseases, Genetic/metabolism , Skin Diseases, Papulosquamous/complications , Skin Diseases, Papulosquamous/genetics , Skin Diseases, Papulosquamous/metabolismABSTRACT
BACKGROUND: Striae distensae (SD) treatment still remains a therapeutic challenge to dermatologists. Ablative fractional laser and radiofrequency (RF) enhance skin-drug permeability for SD treatment. OBJECTIVE: To clinically evaluate the efficacy and safety as well as patient's satisfaction in relation to a method using ablative fractional RF associated with retinoic acid 0.05% cream and an acoustic pressure wave ultrasound (US) in patients with alba-type SD on the breast. METHODS AND MATERIALS: Eight patients with alba-type SD on the breast were treated with three step procedure: (1) fractional ablative RF for skin perforation; (2) topical application of retinoic acid 0.05% on the perforated skin; and (3) US was applied to enhance the retinoic acid penetration into the skin. Other eight patients with alba-type SD on the abdominal area were submitted to RF treatment isolated without retinoic acid or US. Three of them were submitted to skin biopsies. RESULTS: Three patients with SD on the breast area improved from "severe" to "moderate;" two patients improved from "severe" to "mild;" two patients from "moderate" to "mild;" one patient from "marked" to "mild." Clinical assessment demonstrated significant improvement in the appearance of SD in all patients treated with RF associated with retinoic acid 0.05% cream and US (P = 0.008), with low incidence of side effects and high level of patient's satisfaction. Among the patients treated only with RF, two patients improved from "severe" to "marked;" one patient from "marked" to "moderate;" and one patient improved from "marked" to "mild." Four patients did not show any sort of improvement. Clinical assessment demonstrated no significant improvement in the appearance of SD treated with RF isolated with low incidence of side effects, but low-level of patient's satisfaction. CONCLUSION: Ablative fractional RF and acoustic pressure US associated with retinoic acid 0.05% cream is safe and effective for alba-type SD treatment.
