Figure - available from: Skin Appendage Disorders
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a Multiple subungual tumors on all fingernails, right thumb showing periungual fibroma. b Multiple florid tumors on all toenails with nail dystrophy. Inset Hyperkeratotic nail plate of the great toe along with florid masses and second toe showing dystrophic nail plates.
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Introduction:
Koenen tumors are benign, cutaneous manifestations of tuberous sclerosis. These are disfiguring, painful, and challenging to treat as they frequently recur. We report a case of long-standing, multiple Koenen tumors affecting all twenty nails in an elderly female who was successfully treated with a combination of topical sirolimus 1%,...
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Rationale:
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by facial angiofibromas, epilepsy, intellectual disability, and the development of hamartomas in several organs, including the heart, kidneys, brain, and lungs. Mutations in either TSC1 or TSC2 result in dysregulated mTOR activation, leading to the...
Background
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with systemic organ involvement. So far, only a few TSC families in China have been reported. Therefore, more data on the clinical and genetic features of TSC families are required.
Materials and Methods
We retrospectively analyzed 12 TSC family probands and t...
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organs and is caused by inactive mutations in the TSC1 or TSC2 genes. The main symptoms of TSC are neurocutaneous syndrome and benign hamartoma formation. Notably, malignancy is not an indication of TSC. In this article, we present the case of a 48-year-old fem...
Citations
... Although KTs are usually asymptomatic, they can represent a concern to patients due to nail deformity and associated pain with progressive growth. Treatment is considered a true challenge because recurrences rates are high, and no consensus exists about a standard therapy protocol [7][8][9]. ...
... These periungual or subungual fibromas appear as reddish to flesh-colored, smooth, and soft to firm papules and nodules typically emerging from the proximal nail fold of the toenails or, less commonly, the fingernails [4,12]. They are generally 5 to 10 mm in length but may progressively increase in size and form large confluent masses with partial or total destruction of the nail plate [4,8,9,12]. Substantial involvement of the nail apparatus may lead to local pain, recurrent infections, and difficulty to perform daily activities as seen in the presented case. ...
... In aggressive and/or recurrent cases with high morbidity, some authors recommend surgical extirpation of the entire nail apparatus followed by reconstruction with full-thickness skin graft [8,21]. Recently, topical sirolimus 1% has proven to be useful in regressing tumor size before surgical intervention in order to reduce recurrences [9]. In the authors experience, complete surgical excision up to the proximal base of the tumor offers satisfactory results in terms of functionally and esthetic appearance, as seen in the presented case. ...
Introduction:
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement. Multiple ungual fibromas, also known as Koenen tumors (KTs), are one of the major diagnostic criteria and occur approximately in 50% of patients with TSC. They are disfiguring, painful, and challenging to treat as they frequently recur. There are 2 previous cases in the literature of KTs as the only clinical sign of TSC.
Case presentation:
A 56-year-old male patient with intellectual disability presented with a history of ungual growths that had gradually increased in size and number for 20 years. The diagnosis of KTs was established on clinical grounds, without the requirement of histological confirmation. No additional clinical evidence of TSC was found. Complete surgical excision of the tumors located in the proximal nail matrix, periungual folds, and nail bed of each toe was successfully performed.
Discussion:
The association between KTs and intellectual disability with TSC supported the clinical diagnosis. To date, there is no standard first-line treatment for KTs. Complete surgical excision up to the proximal base of the tumor offers satisfactory results in terms of functionally and esthetic appearance and could be considered the preferred therapeutic modality for patients with severe functional and cosmetic impairment. Prompt recognition of the many signs and symptoms associated with TSC is important to achieve early diagnosis, preventing further complications.
