|Year : 2021 | Volume
| Issue : 3 | Page : 163-164
Treatment with sirolimus gel for folliculocystic and collagen hamartoma in tuberous sclerosis complex
Yuko Ehara, Yuichi Yoshida, Hiromi Higaki-Mori, Osamu Yamamoto
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, Japan
|Date of Submission||22-Feb-2021|
|Date of Decision||16-Apr-2021|
|Date of Acceptance||16-Apr-2021|
|Date of Web Publication||28-Jul-2021|
Dr. Yuko Ehara
Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, 86 Nishi-Cho, Yonago-Shi, Tottori 683-8503
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Ehara Y, Yoshida Y, Higaki-Mori H, Yamamoto O. Treatment with sirolimus gel for folliculocystic and collagen hamartoma in tuberous sclerosis complex. Dermatol Sin 2021;39:163-4
|How to cite this URL:|
Ehara Y, Yoshida Y, Higaki-Mori H, Yamamoto O. Treatment with sirolimus gel for folliculocystic and collagen hamartoma in tuberous sclerosis complex. Dermatol Sin [serial online] 2021 [cited 2022 Dec 5];39:163-4. Available from: https://www.dermsinica.org/text.asp?2021/39/3/163/322488
Folliculocystic and collagen hamartoma (FCCH) is a rare hamartoma associated with tuberous sclerosis complex (TSC) that was first described by Torrelo et al. in 2012. The lesion presents as large, painless, nontender plaques with multiple follicular comedo-like openings and keratin-containing cysts. Histopathologically, FCCH is characterized by abundant collagen fibers in the whole dermis, concentric perifollicular fibrosis, and keratin-filled infundibular cysts. Here, we report the first case of FCCH which was treated by the sirolimus (rapamycin) gel.
A 30-year-old Japanese woman diagnosed with TSC was referred to our clinic for evaluation of a 20-year history of asymptomatic plaques on her left thigh. She had been treated with oral administration of everolimus (oral mammalian target of rapamycin complex 1 (mTORC1) inhibitor) for renal angiomyolipoma for 3 years (5 mg/day) and levetiracetam for epilepsy for 20 years. Physical examination revealed a slightly elevated plaque, approximately 20 cm × 15 cm, with numerous comedo-like openings and multiple small and soft nodules on the left thigh [Figure 1]a and [Figure 1]b. We suspected that the lesions were hamartomas, connective tissue nevi, or shagreen patches.
|Figure 1: (a and b) Slightly elevated plaque with numerous comedo-like openings and numerous small nodules are seen on the right thigh (lateral view, a; enlarged view, b). (c) Histopathological examination showed increased collagen in the dermis and keratin-containing cysts lined by an infundibular epithelium with perilesional fibrosis were seen (HE, ×200). (d) Concentric lamellar fibrosis was seen around folliculosebaceous units (HE, ×200). (e and f) The surface of the plaque had become flattened after treatment (before topical treatment, e; after the treatment, f).|
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Histopathological examination revealed increased collagen fibers in the dermis. In addition, we observed keratin-containing cysts lined by an infundibular epithelium showing perilesional fibrosis [Figure 1]c and concentric fibrosis around folliculosebaceous units [Figure 1]d. A final diagnosis of FCCH was made on the basis of these findings. Thereafter, the lesions were partially resected under general anesthesia. The remaining lesions were treated with 0.2% sirolimus (rapamycin) gel (twice/day) for 6 months. Although the volume of the plaque was not decreased, the surface of the plaque had become flattened after treatment [Figure 1]e and [Figure 1]f.
So far, there have been 13 reported cases of FCCH including our case. Eleven cases (84.6%) had TSC as an underlying disease. Most of the hamartomas developed at birth or early infancy (predominantly in males [61.5%]). FCCH occurred on the head and neck (46.2%), trunk (38.5%), and lower limbs (15.3%). In addition to those features, skin tag-like lesions were seen in our case for the first time. We speculated that the lesions were caused by mechanical factors such as rubbing the tumor on the thigh.
Although our patient hoped to receive surgical treatment for cosmetic problems, it was difficult to completely resect the plaques. Therefore, we tried treatment with sirolimus (rapamycin) gel for the first time. Sirolimus gel is a topical mTORC1 inhibitor and has been effective for various skin lesions of TSC (including hypomelanotic macules, angiofibromas, and cephalic plaques). However, the effect of sirolimus gel for FCCH has not been clear. Despite treatment with an oral mTORC1 inhibitor for 3 years, FCCH in the present case did not improve at all. Wataya-Kaneda et al. reported that a topical mTORC1 inhibitor is more effective than an oral mTORC1 inhibitor for skin lesions. In addition, the gel can be used safely without severe adverse effects even in long-term application.
It is necessary to accumulate much more evidence for the effectiveness of the topical mTORC1 inhibitor for hamartomas in TSC including FCCH.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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