Folliculocystic and collagen hamartoma of tuberous sclerosis complex

doi:10.1016/j.jaad.2011.04.002

Journal of the American Academy of Dermatology

Volume 66, Issue 4, April 2012, Pages 617-621

https://doi.org/10.1016/j.jaad.2011.04.002 Get rights and content

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin.

Objective

We sought to describe a new type of complex hamartoma in patients with TSC.

Methods

This was a retrospective clinical and histopathologic evaluation of 6 cases.

Results

The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC.

Limitations

Genetic testing was performed in only one patient.

Conclusion

This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC.

Section snippets

Clinical features

A summary of the cases is presented in Table I. Six male patients presented with a large plaque that was first noticed at birth or during early infancy. All lesions were solitary and initially appeared as a large, painless, infiltrated area of elastic consistency, with an irregular protruding surface. Areas of involvement included the abdomen, thigh, back, and scalp. Very early on, the plaques became studded with numerous follicular comedo-like openings (Fig 1). Later, small cysts appeared and

Histopathology

On gross pathology, all specimens showed a diffuse, whitish fibrotic appearance, with fibrous septae extending into the subcutaneous fat (Fig 3). There were multiple well-defined round and oval cystic inclusions within the papillary and mid dermis.

Light microscopic examination showed 3 main components (Fig 4). First, there was abundant collagen deposition in the form of thick, hyalinized, eosinophilic collagen bundles occupying the whole width of the dermis and extending as fibrous strands into

Discussion

Six children presented with a complex hamartoma composed of thick collagen deposition, concentric perifollicular fibrosis, and keratin-filled infundibular cysts. These striking lesions appeared clinically as a large area of thickened skin studded with multiple comedo-like openings and large keratin-containing cysts. Although infundibular cysts may be induced by an altered stroma,² this was unlikely in our patients, because increased dermal mucin or newly formed blood vessels were not observed.²

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There are more references available in the full text version of this article.

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Citation Excerpt :
The differential diagnosis may also include the folliculocystic and collagen hamartoma associated with TSC; 2 patients with TSC have been described with folliculocystic and collagen hamartomas on the scalp. In contrast to FCPs, these hamartomas show comedo-like openings that may drain a purulent material, and they may also occur on the trunk.17,18 The presence of a FCP or multiple facial angiofibromas is a major feature for diagnosis of TSC; 1 additional major feature is sufficient for a clinical diagnosis.5
Fibrous cephalic plaques (FCPs) stereotypically develop on the forehead of patients with tuberous sclerosis complex (TSC). They constitute a major feature for TSC diagnosis and may present before other TSC-related cutaneous hamartomas.
To describe the clinical characteristics of FCPs in TSC.
A total of 113 patients with TSC were enrolled in an observational cohort study. Retrospective analysis of medical records and skin photography was performed. FCPs were categorized by anatomic location and size.
FCPs were observed in 36% of patients (41 of 113). Of 62 total lesions, 58% were 1 to less than 5 cm, 13% were 5 cm or larger, and 29% were of unknown size mostly because of prior excision. The distribution of lesions was 39% on the forehead, 27% on the face (nonforehead), 3% on the neck, and 31% on the scalp. Fourteen patients had similar lesions less than 1 cm in diameter. Histopathologically, FCPs displayed dermal collagenosis, decreased elastic fibers, and features of angiofibromas or fibrofolliculomas.
Men were under-represented because the cohort was enriched for patients with TSC with lymphangioleiomyomatosis, which occurs in adult women.
Two-fifths of FCPs presented on the forehead, with most of the remainder in other locations on the face and scalp. Better recognition of these lesions may lead to earlier diagnosis of TSC.
Extensive connective tissue nevus in children
2017, Annales de Dermatologie et de Venereologie
L’hamartome conjonctif (HC) est une anomalie rare des composants de la matrice extracellulaire qui se présente habituellement sous la forme de papules couleur de peau normale. Cette atteinte peut être syndromique ou sporadique.
Nous rapportons deux cas d’HC isolés de l’enfant, très étendus et infiltrants, qui entraînaient un risque d’enraidissement articulaire. Il s’agissait d’un hamartome mixte et d’un collagénome.
Il est difficile de dater l’apparition de ces lésions qui passent souvent inaperçues au début. Devant un HC étendu, les principaux diagnostics différentiels à éliminer grâce à la biopsie cutanée sont la fasciite à éosinophiles et la morphée. L’HC peut être associé à des lésions d’osteopœcilie dans le syndrome de Buschke-Ollendorf, à rechercher par un bilan radiologique itératif. La prise en charge est symptomatique.
Connective tissue nevus (CTN) is a rare condition of the extracellular matrix components that generally presents as papulae of normal skin colour. This condition may be syndromic or sporadic.
We report herein two isolated cases of extensive and infiltrative CTN in children at risk for subsequent joint stiffening. The pathology samples displayed respectively mixed hamartoma and a collagenoma.
The onset of these lesions is often difficult to establish, since they are usually unnoticeable at first. When confronted with extensive CTN, the main differential diagnoses are eosinophilic fasciitis and morphea, and these must be ruled out by skin biopsy. CTN is associated with osteopoikilosis in Buschke-Ollendorf syndrome. Skeletal lesions are asymptomatic and are detected by means of iterative X-ray. Their management comprises symptomatic care.
Clinical, pathological, and molecular correlation of folliculocystic and collagen hamartoma: A new potential diagnostic criterion for tuberous sclerosis complex?
2023, Journal of Cutaneous Pathology

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: Conflicts of interest: None declared.

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Original articleFolliculocystic and collagen hamartoma of tuberous sclerosis complex

Background

Objective

Methods

Results

Limitations

Conclusion

Section snippets

Clinical features

Histopathology

Discussion

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria

J Child Neurol

Induction of cutaneous hyperplasias by altered stroma

Am J Dermatopathol

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

Int J Dermatol

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Nat Genet

Colagenomasolitariogigante

Actas Dermo-Sif

Dermatologic aspects of tuberous sclerosis

Arch Dermatol Syph

Original article
Folliculocystic and collagen hamartoma of tuberous sclerosis complex