Chapter 66 Dermal Hypertrophies and Benign Fibroblastic/Myofibroblastic Tumors Flashcards
predisposition to keloids in darker skin and reports of a familial, autosomal _____ inheritance suggest genetic influences.
dominant
There also is an apparent association with melanin pigment, as albino and vitiliginous skin form keloids. T/F ?
F
do not
Histopathologically, ____ are composed of thick, haphazard, eosinophilic, collagen bundles
keloids
______ are more cellular with myo bro- blasts either in disorganized whorls or sometimes oriented parallel to the epidermis
Hypertrophic scars
Hypertrophic scars are associated with HLA-_____
DRB16
Keloids express increased levels of the ____ protein, an oncogene product also present in neoplasms such as basal cell carcinoma
gli-1 protein
______ (a collagenase inhibitor usually not present in normal scars) may contribute to increased collagen deposits
α1-Globulin
Hypertrophic scars have decreased levels of the profibrotic agent ______
tumor necrosis factor
_____ treatment reduces TGF-β1 levels in keloids
Carbon dioxide laser
Dermato broma is a common, benign tumor that has a predilection for the _______
lower legs of women
Histologically, the epidermis is usually hyperplastic and hyperpigmented.
There may be follicular or sebaceous induction.
The dermis has fascicles or haphazardly arranged collections of spindle cells that lack atypia in most cases of ______
dermatofibroma
edges of the lesion are poorly defined with individual cells hugging collagen bundles (“collagen entrapment”)
Dermatofibromas are generally factor ____ and CD ____
XIIIa-positive and CD34−
features of ATYPICAL, CELLULAR, DEEP, AND INDETERMINATE FIBROUS HISTIOCYTOMAS
Clinical Features Often >2 cm in size Sometimes facial Any age, but some predilection for young adults Often recur after incomplete excision Rare potential for metastasis
Histologic Features
Background of dermatofibroma/fibrous histiocytoma
Variable areas of atypical cells, high cellularity
May extend deeply into subcutaneous, sometimes in a honeycomb pattern
May stain with CD34
Histologically, ______ is a polypoid lesion with a central collagenous core. Adnexal structures are generally absent.
an acrochordon (fibroepithelial polyp, soft fibroma)
Histologically, the dermis shows fibrosis with stellate fibroblasts and dilated vessels.
fibrous papules (angiofibroma)
Identical histology is seen in pearly penile papules and periungual fibromas (Koenen’s tumors)
2- to 4-mm, dome-shaped, yellowish to skin-colored papules located on the head, neck, and upper trunk; multiple lesions may be associated with Birt–Hogg–Dubé syndrome
fibrofolliculoma/trichodiscoma
Histologically, _______ show a normal epidermis overlying collagen in the lower dermis. The collagen may be subtly increased, thickened, or oriented vertically to the epidermis, and muscin may be increased. Elastic fibers may also be increased.
connective tissue nevi
Familial cutaneous collagenoma is an autosomal dominantly inherited condition of multiple, often papular connective tissue nevi usually appearing postpuberty on the trunk and upper extremities
pro- gressive cardiomyopathy.
Mutations have been found in the adenomatous polyposis coli (APC) gene (5q21)
desmoid tumor (aggressive fibromatosis)
Tumors associated with Gardner/Familial adenomatous polyposis (FAP) are often intra- abdominal, may be more aggressive and surgically unresectable, and are associated with a 10% mortality
______ presents as a rapidly growing nodule on the head and neck, shoulder/upper arm, or thigh; generally before age 2
Infantile fibromatosis
The lipofibromatosis variant has a predilection for the hands and feet
________ generally presents before age 2, with many cases being congenital.
Multiple nodules involving the skin and other organs (gastrointestinal, kidney, lung, heart) are seen, with mortality approaching 75%
Infantile myofibromatosis
Histologic diagnosis relies on the identification of two separate components—a fascicular myofibroblastic pattern at the periphery with a hemangiopericytoma-like pattern in the center
Histopathologic examination as well as cytogenetic and molecular pathology studies will distinguish ______ (chromosome 8 abnormalities) from ______________ (translocation between chromosomes 12 and 15—ETV6 and NTRK3 genes)
myofibromas
congenital infantile fibrosarcomas
_____________ is a rare benign tumor that presents before age 2 (up to 25% congenital) as a solitary, painless, rapidly growing, flesh-colored, ill-defined, subcutaneous nodule, or plaque. There is a male predominance.
Fibrous hamartoma of infancy
These lesions rarely present with overlying skin changes such as hypertrichosis, alteration in pigmentation, and eccrine
gland hyperplasia
________ is an often self-limiting, rapidly growing tumor, presenting in the first few weeks of life.
benign proliferation of fibroblasts in the lower one-third of the sternocleidomastoid muscle, rarely bilateral, and occasionally associated with torticollis or facial asymmetry
Fibromatosis colli
fine needle aspiration for diagnosis
__________ is a rare form of superficial juvenile fibromatosis presenting as (an) asymptomatic, flesh-colored, firm nodule(s) on the fingers and toes (tending to spare the thumb or hallux)
Infantile digital fibromatosis
The pathognomonic finding is eosinophilic, perinuclear inclusion bodies composed of actin laments, which stain red with Masson trichrome stain and purple with phospho- tungstic acid-hematoxylin
the palms and soles of male children and young adults (peak incidence between the ages of 8 and 14)
it can present in any area that is closely related to aponeuroses
It is a very slow growing, deep-seated firm proliferation that presents as an asymptomatic infiltrative soft tissue mass, usually measuring less than 3 cm in diameter
calcifying aponeurotic fibroma
On histopathologic examination, it is an ill-defined, poorly circumscribed tumor composed of spindled fibroblasts surrounding central calcified foci
rare, autosomal recessive condition secondary to a defect on chromosome 4q21 associated with the locus of the capillary morphogenesis gene-2 (CMG2)
From infancy, subcutaneous, pearly papules and firm, large nodules that progressively enlarge and may ulcerate appear on the nose, chin, ears, scalp, hands, back, and knees
gingival hypertrophy, which can result in periodontal disease and caries
Juvenile hyaline fibromatosis (JHF)
manifestations are present within the first months of life and often at birth
diffusely thickened skin, hyperpigmented plaques on bony prominences, visceral involvement, frequent infections, and persistent diarrhea with failure to thrive, leading to death during infancy
infantile systemic hyalinosis (ISH)
_______ is characterized by progressive fibrosis of the palmar fascia, most commonly presenting as one or more nodules over the fourth and fifth metacarpal head.
Nodules become cords, and joint contractures and exion deformities of the fingers may follow
Dupuytren contracture (palmar fibromatosis)
Signi cant risk factors for development of Dupuytren contracture include
old age, male sex,
white northern European ancestry, family history,
seizures, alcohol-induced liver disease,
trauma, smoking, and diabetes mellitus
________ is characterized by plantar fibrosis especially over nonweight-bearing areas of the sole
Contractures are uncommon
Ledderhose disease
Fibrosis of the dorso-lateral penis, resulting in curvature of the penis and erectile dysfunction, is termed
Peyronie disease
Risk factors include genetic predisposition, trauma to the penis, smoking, alcohol consumption, history of diabetes or hypercholesterolemia
________ are circumscribed, thickened plaques over the dorsal aspects of the interphalangeal joints.
Many patients have coexisting palmar, plantar, or penile fibromatosis
Knuckle pads
_________ is a rare form of benign digital fibromatosis consisting of symmetric, painless, circumscribed swelling of the proximal interphalangeal joints of the fingers, often sparing the thumb
Pachydermodactyly
may be associated with tuberous sclerosis, atrophia maculosa varioliformis cutis (noninflammatory pitted scarring, usually on the face) and carpal tunnel syndrome
_______ is a benign, self-limiting proliferation of fibroblasts of uncertain etiology that often follows trauma, observed most frequently on the upper extremity
rapidly growing, painful mass (generally less than 2 cm) in the subcutis, fascia, or muscle
Nodular fasciitis
Cranial fasciitis is the most common
variant in children and involves the head and neck.
______ is a rarely diagnosed, benign, fibroproliferative, soft-tissue tumor that occurs predominantly in the periscapular region of middle-aged to elderly women
Elastofibroma
poorly circumscribed, rm, mobile mass; typically, the lesions are concealed with retraction and protuberant with protraction of the shoulders
keratotic papule acquired in adulthood, often on the digits or occasionally the palms/ soles
acquired digital fibrokeratoma (acral fibrokeratoma)
1–2 cm, ill-defined, indurated plaque, most commonly seen in young women on the shoulder or upper arm
dermatomyofibroma
solitary and appear in middle-aged to older individuals. They are generally nondescript, slow-growing, dome-shaped, or polypoid lesions with a predilection for the extremities
pleomorphic fibroma
benign tumor that appears as a slow-growing, painless, mobile mass (1–20 cm) located in the subcutaneous tissue or just deep to skeletal muscle. This tumor has a predilection for the upper arm and shoulder
collagenous fibroma (desmoplastic fibroblastoma)
tumor that some consider of vascular origin
When solitary or multiple in the skin, the prognosis is excellent, with spontaneous regression in some cases
These tumors have a wide distribution, but are often on the extremities in adults and are painless
myofibroma
Histologically, there are dilated vessels, sometimes staghorn (some consider solitary fibrous tumor and hemangiopericytoma to be part of a spectrum), with interspersed spindle cells that are arranged in a “patternless” pattern. Cells are CD34+
solitary fibrous tumor
often at puberty, and when primary, affects males more commonly. The scalp appears folded, with furrows run- ning anteriorly to posteriorly. Primary disease is idiopathic or associated with neuropsychiatric disor- ders
cutis verticis gyrata
_________ is a rare genetic syndrome with most cases having autosomal dominant transmission.
At puberty, there is progressive enlargement of the joints due to pachydermia, periostosis, and clubbing.
Other features include thickened skin on the face and scalp (resembling cutis verticis gyrata), palmoplantar hyperhidrosis, and acro-osteolysis
Pachydermoperiostosis (primary hypertrophic osteoarthropathy)
In patients with Proteus syndrome, the soles (and sometimes the palms) have cerebriform overgrowth with gigantism
cerebriform fibrous proliferation
