Facial folliculocystic and collagen hamartoma: a variant of fibrous cephalic plaque with prominent cyst formation?

Reolid, Alejandra; Navarro, R.; Daudén, E.; Alonso-Cerezo, María Concepción; Fraga, Javier; Llamas‐Velasco, Mar

doi:10.1111/ddg.13867

Cited by 11 publications

(34 citation statements)

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“…The authors assumed that 'at least some cases represent a type 2 segmental manifestation of TSC, superimposed on the usual features of the autosomal dominant disorder'. 27 In the light of further publications on folliculocystic and collagen hamartoma, [28][29][30][31] we can today conclude that all cases of this particular skin lesion reflect superimposed mosaicism. The disorder has preponderantly been found in male patients.…”

Section: Folliculocystic and Collagen Hamartomamentioning

confidence: 95%

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Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage. So far, the second category has been called 'type 2 segmental mosaicism', but here we propose the short and unambiguous term 'superimposed mosaicism'. In order to render physicians familiar with the manifold manifestations of this category as noted in tuberous sclerosis, we review the following clinical designations under which cases suggesting superimposed mosaicism have been published: forehead plaque; shagreen patch; fibrous cephalic plaque; fibromatous lesion of the scalp; folliculocystic and collagen hamartoma; segmental hypomelanosis; congenital segmental lymphedema; and segmental 'diffuse' lipomatosis. Molecular corroboration of this genetic concept has been provided in a case of forehead plaque and in a child with shagreen patch.-Extracutaneous manifestations suggesting superimposed mosaicism include columnar tuberous brain defects; 'radial migration lines' or 'cerebral white matter migration lines' as noted by brain imaging; linear hamartomatous lesions of the tongue; fibrous dysplasia of bones including macrodactyly; and unilateral overgrowth of an arm or leg.-Remarkably, superimposed mosaicism appears to occur in tuberous sclerosis far more frequently than simple segmental mosaicism.

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Section: Folliculocystic and Collagen Hamartomamentioning

confidence: 95%

“…Folliculocystic and collagen hamartoma involving the left mandibular region; a: close‐up of follicular plugs 28 . (Reproduced with permission from Wiley and Sons, USA).…”

Section: Clinical Features Of Suggesting Superimposed Mosaicism In Tscmentioning

confidence: 99%

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Happle

Torrelo

2020

Acad Dermatol Venereol

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“…FCCH was first described by Torrelo et al in 2012 in six male patients as a solitary lesion with elastic consistency studded with comedo‐like openings and multiple cysts on the surface; five of that patients met criteria for TSC 1 . From the first characterization, six additional cases have been reported, all of them solitary lesions in both women and men and, in two of those patients, no other findings related to tuberous sclerosis were found 2,3 …”

Section: Introductionmentioning

confidence: 97%

“…1 From the first characterization, six additional cases have been reported, all of them solitary lesions in both women and men and, in two of those patients, no other findings related to tuberous sclerosis were found. 2,3…”

Section: Introductionmentioning

confidence: 99%

Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion

Roca-Ginés

Torres‐Navarro

Llavador-Ros

et al. 2020

Pediatric Dermatology

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Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo-like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one-year-old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified.

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“…It presents as a complex hamartoma with thick collagen deposition, concentric perifollicular fibrosis, and keratin-filled infundibular cysts [ 3 ]. On physical examination, the lesions appear as “large, painless, infiltrated plaques studded with follicular comedo-like openings and cysts containing and draining a keratinous or purulent material” [ 3 ] and have been reported on the face, scalp, abdomen, back, and thigh [ 4 ]. Since its initial characterization, 12 cases of FCCH have been reported, six of which were from the original report from Torrelo et al in 2012 [ 3 - 9 ].…”

Section: Introductionmentioning

confidence: 99%

Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque

Savell¹,

Norton²,

Heaphy³

2021

Cureus

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Tuberous sclerosis complex is known to cause a variety of cutaneous hamartomas, most commonly hypomelanotic macules, angiofibromas, shagreen patches, and fibrous cephalic plaques. In recent years, a new cutaneous hamartoma that bears physical and histological resemblance to fibrous cephalic plaque has been proposed called folliculocystic and collagen hamartoma. The primary difference between the two diagnoses is the histologic presence of infundibular cysts in the latter. However, some authors have called into question if the two diagnoses are truly distinct. In this case report, we present a patient with tuberous sclerosis complex and fibrous cephalic plaque with infundibular cysts and propose that the presence of cysts should be incorporated into the possible histologic features of fibrous cephalic plaque.

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Facial folliculocystic and collagen hamartoma: a variant of fibrous cephalic plaque with prominent cyst formation?

Cited by 11 publications

References 0 publications

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?

Folliculocystic and collagenous hamartoma of tuberous sclerosis complex, not always a single cutaneous lesion

Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque

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