Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl

Abstract

IMPORTANCE Current models of Goltz syndrome cannot estimate the overall neocollagenesis and marked shift in collagen types after ablative fractional laser resurfacing (AFR) within treated areas of focal dermal hypoplasia (FDH).OBJECTIVES To clinically improve FDH by using AFR to characterize the specific ratio of collagen types associated with observed clinical changes. DESIGN, SETTING, AND PARTICIPANTSThis case report of a girl with Goltz syndrome used extensive laboratory evaluation and multiple observers blinded to the patient's clinical status. Serial samples of clinically unaffected skin constituted internal control specimens, with clinical and histologic evaluations performed as part of a multicenter investigation. The analysis tested the hypothesis that thermal microtrauma caused by AFR created a unique environment that activated latent genes, inducing neocollagenesis and allowing the patient to adaptively produce the collagen subtype that was specifically deficient at baseline. INTERVENTIONSTwo AFR treatments were administered within an area of FDH. Histologic comparison of the pretreatment and posttreatment skin was performed using serial internal controls.MAIN OUTCOMES AND MEASURES Histologic changes, including Herovici collagen staining to differentiate between types I and III collagen, within a treated area of mosaically affected FDH compared with clinically unaffected skin. RESULTSThis female patient presented in the second decade of life with self-described red, itchy skin within a large plaque of FDH on her left posterior thigh and calf. After AFR, skin tightening and symptomatic relief were reported. Histologic findings demonstrated objective thickening of the dermal collagen. A marked shift in collagen predominance from type III (fetal/early wound) to type I (adult/mature) was observed.CONCLUSIONS AND RELEVANCE Although further study is needed, this report shows promising results and raises important questions about gene expression and the epigenetics of Goltz syndrome-associated mutations and the local effects of AFR. Coupled with more rigorous investigation, this novel technique may help reveal molecular workarounds permitting innovative therapies that take advantage of the subtly different collagens that exist within the skin.

Novel uses of laser therapy in Goltz syndrome

“…Ablative fractional carbon dioxide laser resurfacing has been shown recently to induce neocollagenesis, leading to an increased ratio of type III to type I collagen in atrophic plaques in patients with Goltz syndrome 10 . The mechanism underlying this process has yet to be fully elucidated but holds promising results in helping to clinically normalize areas of atrophy in these patients.…”

“…Regarding treatment, the use of reconstructive surgery 8 and laser therapy 9,10 has been described with a focus on support. We report two patients with Goltz syndrome who were treated with laser therapy to improve their skin findings.…”

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

“…In particular, skin findings can be observed at birth and are characterized as follows: atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Histologic evaluation of mosaically affected FDH shows atrophic dermis, increased dermal adipocytes, increased papillary dermal capillaries, abnormal fibroblasts and sparse and disorganized collagen [76].…”

Fractional ablative CO2 laser and oral isotretinoin—A prospective randomized controlled split‐face trial comparing concurrent versus delayed laser treatment for acne scars

“…17 Through controlled collagen heating, this modality stimulates new collagen production by promoting proliferation and migration of fibroblasts, as well as modulating matrix metalloproteinases (MMPs) and growth factors' (GFs) expression, which subsequently improves scar appearance. [18][19][20][21][22][23] To date, traditional therapeutic dogma dictates that FACL be avoided during acne treatment and until at least 6 months following ITN therapy. 8 In 2017, the American Society for Dermatologic Surgery (ASDS) established a task force to evaluate the available literature regarding the safety of laser treatment with concurrent ITN therapy.…”