Sec 9 Disorders of Dermal Connective Tissue Flashcards

1
Q

It is a complex network of different components, responsible for determining and maintaining tissue architecture, and for mediating a number of important biological events composed of a large number of diverse protein families.

A

Extracellular Matrix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

The most widely distributed and the most extensively characterized form of collagens, accounts for approximately 80% of the total collagens of adult human dermis.

A

Type I collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Represents approximately 10% of the total collagens in the adult human dermis. It is composed of three identical α1(III) chains, distinguished from the chains of type I collagens by a relatively high content of hydroxyproline and glycine and the presence of one cysteine residue.

A

Type III Collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

It is a typical component of basement membranes, where it forms a lattice rather than the fibers characteristic of dermal collagens.

A

Type IV Collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

It forms specific microfibrils in the dermis

A

Type VI Collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

The major, if not the exclusive, component of the anchoring fibrils at the dermal–epidermal junction, has an unusually long triple-helical region of approximately 450 nm

A

Type VII Collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

These are basement membrane-associated collagens. They have been called multiplexins because they contain multiple noncollagenous domains in their collagenous sequences.

A

Type XV and XVIII Collagens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

It is a transmembrane protein anchored in the membrane of basal keratinocytes, with an intracellular domain and a large extracellular domain, or ectodomain, which is a component of the basement membrane at the dermal–epidermal junction.

A

Type XVII Collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Chronic autoimmune disease characterized by sclerosis of the skin

A

Morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Stage: begins as erythematous plaques or patches, sometimes with a reticulated appearance then later hypopigmented sclerotic plaques develop at the center of the lesion, surrounded by an erythematous or violaceous border

A

Inflammatory stage of Morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Forms a subfamily of similar interrelated collagens resulting from various assemblies of three different types of α chains, α1(V), α2(V), and α3(V).

A

Type V collagen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Stage: there is loss of hair follicles, producing alopecia; over months to years, the sclerotic plaque softens and becomes atrophic with hypo- or hyperpigmentation

A

Atrophic stage of Morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Stage: Pain and/or itching can precede the initial skin findings; sclerosis develops centrally, which turns into a shiny white color, as lesions expand with surrounding hyperpigmentation

A

Sclerotic stage of Morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Changes in atrophic stage of Morphea

A

cigarette paper wrinkling - papillary dermis
cliff drop - dermal
deep indentions - subcutis or deeper

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Represents oval to round lesions undergoing the stages of activity that are not diffuse enough to meet criteria for generalized disease

A

Circumscribed morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Characterized by more than or equal to four lesions on at least two of seven different anatomic sites (head-neck, right/left upper extremity, right/left lower extremity, anterior/posterior trunk)

A

Generalized morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Generalized morphea subtypes

A
  1. isomorphic - coalescent plaques inframammary fold, waistline, lower abdomen, proximal thighs
  2. symmetric - symmetric plaques circumferential around breasts, umbilicus, arms, and legs
  3. pansclerotic - circumferential involvement of majority of body surface area (sparing ngertips and toes), affecting skin, subcutaneous tissue, muscle or bone
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Usually affects the extremities and face, but it can occur on the trunk which may follow Blaschko’s lines

A

Linear morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

May present as an atrophic band linear plaque on the forehead, extending to the scalp (where cicatricial alopecia occurs), brow, nose, and lip.

A

En Coup de Sabre

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Characterized by a slowly progressive, unilateral atrophy of skin, soft tissues, muscles, and/or bony structures. The atrophy may be accompanied by classic linear morphea lesions on the face or elsewhere.

A

Progressive Hemifacial Atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Involves the deep dermis, subcutaneous tissue, fascia, and muscle. Plaques are poorly circumscribed and symmetrical with the skin feels thickened and bound down to the underlying fascia and muscle; a “groove sign” (depression) may be present at the site of tendons and ligaments

A

Deep morphea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

A related disorder presenting with rapid onset of symmetric areas of pain and edema, usually on the extremities; may occur with cutaneous induration similar to morphea, or remain without skin involvement.

A

Shulman syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Provides a complete assessment of the extent of disease, including depth of involvement and disease activity of Morphea

A

Magnetic Resonance Imaging

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

A sensitive tool to evaluate or monitor tissue thickness, loss of subcutaneous fat and muscle, or other architectural alterations in Morphea

A

Ultrasonography

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Presents as polygonal papules and porcelain-white plaques with atrophic fragile skin, fissures, telangiectasias, purpura, erythema, erosions, and different degrees of sclerosis are present in the anogenital area with severe itching

A

Lichen sclerosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Frequently causes intractable itching and soreness, dyspareunia, dysuria, discomfort with defecation, or genital bleeding and, with time, may lead to destructive scarring; gradual obliteration or synechiae of the labia minora and clitoris, as well as stenosis of the introitus, may also result

A

Anogenital lichen sclerosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Extragenital lichen sclerosus

A

Thigh
Neck
Trunk
Lips

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Associated autoimmune diseases with lichen sclerosis

A
Autoimmune thyroid disease
Alopecia areata
Pernicious anemia
Morphea
Vitiligo
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Histopathology: shows an atrophic epidermis and a lichenoid infiltrate at the dermal–epidermal junction. Papillary edema is usually seen in early lesions but is gradually replaced by fibrosis with homogenization of acid mucopolysaccharides as the lesion matures.

A

Lichen sclerosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Main complication in females with Lichen sclerosus

A

Squamous cell carcinoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Most frequent complications in males with Lichen sclerosus

A

Painful erection

Urinary obstruction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

The single most effective treatment of LS

A

Ultrapotent topical corticosteroids limited, generally to 4–6 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Appears as well-circumscribed pink to purple or hyperpigmented firm nodules or plaques. Their surface is usually smooth, but can be nodular and borders are often smooth, but can be irregular. There is a predilection for developing at sites of increased tension, such as the shoulders, sternum, mandible, and arms; also commonly affect the earlobes. They are often painful, hyperesthetic, or pruritic.

A

Keloid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Histopathology: composed of thick, haphazard, eosinophilic, collagen bundles.

A

Keloid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Histopathology: more cellular with myofibroblasts either in disorganized whorls or sometimes oriented parallel to the epidermis

A

Hypertrophic scar

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Associated Genetic syndrome: Keloids

A

Rubinstein–Taybi

Goeminne

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Associated Genetic syndrome: Acrochordon-like lesions

A

Birt–Hogg–Dubé

Gorlin (Nevoid basal cell carcinoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Associated Genetic syndrome: Fibrous papules/angioma

A

Tuberous sclerosis
Multiple endocrine neoplasia type I
Birt–Hogg–Dubé

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Associated Genetic syndrome: Fibrofolliculomas/ trichodiscomas

A

Birt–Hogg–Dubé

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Associated Genetic syndrome: Connective tissue nevus

A
Tuberous sclerosis
Buschke–Ollendorf
Familial cutaneous collagenoma 
Multiple endocrine neoplasia type I 
Birt–Hogg–Dubé 
Ehlers–Danlos (hypermobile, type III) 
Hunter/Hurler
41
Q

Associated Genetic syndrome: Sclerotic fibroma (circumscribed storiform collagenoma, plywood fibroma)

A

Cowden

42
Q

Associated Genetic syndrome: Desmoid Tumor

A

Gardner/Familial adenomatous polyposis

Familial infiltrative fibromatosis/ Hereditary desmoid disease

43
Q

Associated Genetic syndrome: Cutis verticis gyrata

A
Turner 
Noonan 
Fragile X 
Klinefelter 
Tuberous sclerosis 
Beare–Stevenson 
Ehlers–Danlos 
Apert
44
Q

Associated Genetic syndrome: Knuckle pads

A

Bart–Pumphrey

45
Q

Associated Genetic syndrome: Cerebriform fibrous proliferation

A

Proteus

46
Q

Associated Genetic syndrome: Gardner fibroma

A

Gardner/Familial adenomatous polyposis

47
Q

Factors associated with Keloid (increased)

A
Transforming growth factor-β 
Platelet-derived growth factor 
Vascular endothelial growth factor 
Collagen 
Cytokines (e.g., IL-1, IL-6) 
Cyclooxygenase 2 
Plasminogen activator inhibitor-1 
Matrix metalloproteinase-2
48
Q

Factors associated with Keloid (decreased)

A
SMAD proteins (e.g., SMAD7) 
Apoptosis
49
Q

A common, benign tumor that has a predilection for the lower legs of women. Trauma, such as secondary to insect bites, has been thought to induce some lesions, suggesting a reactive/reparative process. Usually asymptomatic but occasionally are pruritic or painful. Some tumors grow very rapidly, whereas others remain static for many years. Characteristically, it is firm, measuring from 0.5 mm to 1 cm in diameter, and lateral compression produces a dimple-like depression in the skin. The surface may be shiny or keratotic, and the color is variable, often brown but sometimes pink, red, tan, or flesh colored.

A

Dermatofibroma

50
Q

Histopathology: 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. The edges of the lesion are poorly defined with individual cells hugging collagen bundles (“collagen entrapment”).

A

Dermatofibroma

51
Q

Pedunculated papules or tumors that are most commonly located on the eyelids, neck, axillae, and groin. There is a familial disposition, and are more commonly seen in obese individuals, sometimes overlying acanthosis nigricans.

A

Acrochordons

52
Q

A common papule on the lower portion of the nose or the central face. It usually presents in adulthood. Multiple lesions are a feature of certain genetic syndromes but occasionally may be seen in patients with no other stigmata of a genetic disorder. It is small (2–5 mm), nontender, flesh colored (sometimes pink or slightly hyperpigmented), firm, and dome shaped.

A

Fibrous papule

53
Q

Histopathology: the dermis shows fibrosis with stellate fibroblasts and dilated vessels.

A

Fibrous papule

54
Q

These are 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

A

Fibrofolliculomas/trichodiscomas

55
Q

Present as asymptomatic, flesh-colored to yellow–brown papules or plaques that may be solitary or grouped, linear, or irregular in distribution

A

Connective tissue nevi

56
Q

Histopathology: show a normal epidermis overlying collagen in the lower dermis. The collagen may be subtly increased, thickened, or oriented vertically to the epidermis, and mucin may be increased. Elastic fibers may also be increased.

A

Connective tissue nevi

57
Q

An autosomal dominantly inherited condition of multiple, often papular connective tissue nevi usually appearing postpuberty on the trunk and upper extremitie

A

Familial cutaneous collagenoma

58
Q

Presents as a rapidly growing nodule on the head and neck, shoulder/upper arm, or thigh; generally before age 2.

A

Infantile fibromatosis

59
Q

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%. Prognosis is generally excellent if limited to the skin.

A

Infantile Myofibromatosis

60
Q

A rare benign tumor that presents before age 2 as a solitary, painless, rapidly growing, flesh-colored, ill-defined, subcutaneous nodule, or plaque. There is a male predominance. The most common locations are the axillary region, upper arm, upper trunk, inguinal region, and external genital region. These lesions rarely present with overlying skin changes such as hypertrichosis, alteration in pigmentation, and eccrine gland hyperplasia.

A

Fibrous Hamartoma of Infancy

61
Q

A self-limiting, rapidly growing tumor, presenting in the first few weeks of life. It is characterized by a benign proliferation of fibroblasts in the lower one-third of the sternocleidomastoid muscle, rarely bilateral, and occasionally associated with torticollis or facial asymmetry. The tumor often resolves within the first year of life.

A

Fibromatosis colli

62
Q

A rare condition presenting as asymptomatic, flesh-colored, firm nodule(s) on the fingers and toes (tending to spare the thumb or hallux), primarily in infants and less commonly in children. One-third of cases are congenital.

A

Infantile digital fibromatosis

63
Q

Histopathology: poorly circumscribed, interlacing bundles of myofibroblasts are observed. The pathognomonic finding is eosinophilic, perinuclear inclusion bodies composed of actin filaments, which stain red with Masson trichrome stain and purple with phosphotungstic acid-hematoxylin.

A

Infantile digital fibromatosis

65
Q

An uncommon, benign fibrous tumor. It is most commonly found on the palms and soles of male children and young adults. However, 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.

A

Calcifying aponeurotic fibroma

66
Q

Histopathology: an ill-defined, poorly circumscribed tumor composed of spindled fibroblasts surrounding central calcified foci. The lesion typically is organized into nodules, with central hyalinization and incipient calcification surrounded by a palisade of chondrocyte-like cells. Less cellular areas contain spindled fibroblastic cells between coalescing calcified nodules. Osteoclastic giant cells may border the calcific deposits.

A

Calcifying aponeurotic fibroma

67
Q

A 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.

A

Juvenile hyaline fibromatosis (JHF)

68
Q

Characterised 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 flexion deformities of the fingers may follow. Significant risk factors include old age, male sex, white northern European ancestry, family history, seizures, alcohol-induced liver disease, trauma, smoking, and diabetes mellitus.

A

Dupuytren contracture (Palmoplantar fibromatosis)

69
Q

Fibrosis of the dorso-lateral penis, resulting in curvature of the penis and erectile dysfunction. Risk factors include genetic predisposition, trauma to the penis, smoking, alcohol consumption, and history of diabetes or hypercholesterolemia.

A

Peyronie disease

70
Q

Circumscribed, thickened plaques over the dorsal aspects of the interphalangeal joints. Many patients have coexisting palmar, plantar, or penile fibromatosis.

A

Knuckle pads

71
Q

Rare form of benign digital fibromatosis consisting of symmetric, painless, circumscribed swelling of the proximal interphalangeal joints of the fingers, often sparing the thumb. It primarily affects adolescent males.

A

Pachydermodactyly

72
Q

A benign, self-limiting proliferation of fibroblasts of uncertain etiology that often follows trauma, observed most frequently on the upper extremity. Most commonly in young adults, but it can occur at any age, without racial or sex predilection. It presents as a rapidly growing, painful mass (generally <2 cm) in the subcutis, fascia, or muscle.

A

Nodular fasciitis

73
Q

Rarely diagnosed, benign, fibroproliferative, soft-tissue tumor that occurs predominantly in the bilateral periscapular region of middle-aged to elderly women. This tumor presents as a poorly circumscribed, firm, mobile mass; typically, the lesions are concealed with retraction and protuberant with protraction of the shoulders. Usually asymptomatic and present with a painless swelling.

A

Elastofibroma

74
Q

This lesion is a keratotic papule acquired in adulthood, often on the digits or occasionally the palms/soles. Histologically, there is overlying hyperkeratosis with abundant dermal collagen that is perpendicular to the epidermis in the papillary dermis.

A

Acquired digital fibrokeratoma

75
Q

This is a 1–2 cm, ill-defined, indurated plaque, most commonly seen in young women on the shoulder or upper arm. Histologically, in the deep dermis, there are fascicles of slender spindle cells parallel to the epidermis, with sparing of adnexal structures.

A

Dermatomyofibroma

76
Q

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. Histologically, a polypoid lesion with a collagenous core has multinucleated cells and scattered large cells with atypical nuclei.

A

Pleomorphic fibroma

77
Q

Usually presents in the fifth to sixth decades with a 5:1 male–female ratio. It is a 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. Histologically, the tumor has an infiltrative appearance into fascia or skeletal muscle and is composed of bland stellate and spindle-shaped fibroblasts and myofibroblasts in a collagenous matrix.

A

Collagenous fibroma

78
Q

These tumors have a wide distribution, but are often on the extremities in adults and are painless. All ages may be affected. Histologic findings are diagnostic, commonly with multiple nodules or poorly circumscribed fascicles of spindle cells that express smooth muscle actin intermixed with thick collagen, sometimes with peripheral cells having a pericytic appearance.

A

Myofibroma

79
Q

Tumor once thought to only involve the pleural cavity but now known to be a rare soft tissue tumor. It usually behaves nonaggressively. Histologically, there are dilated vessels, sometimes staghorn, with interspersed spindle cells that are arranged in a “patternless” pattern. Cells are CD34 +.

A

Solitary fibrous tumor

80
Q

This rare condition presents on the scalp, often at puberty, and when primary, affects males more commonly. The scalp appears folded, with furrows running anteriorly to posteriorly. Primary disease is idiopathic or associated with neuropsychiatric disorders. Histologically, the areas of folded scalp appear normal.

A

Cutis verticis gyrata

81
Q

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, palmoplantar hyperhidrosis, and acroosteolysis.

A

Pachydermoperiostosis (Primary hypertrophic osteoarthropathy)

82
Q

Characterized by a circumscribed loss of normal skin elasticity. The characteristic lesions are flaccid circumscribed areas of slack skin with the impression of loss of dermal substance forming depressions, wrinkling, or sac-like protrusions. These atrophic, skin-colored, or blue–white lesions are 5–30 mm in diameter. The number varies from a few to hundreds. The skin surface can be wrinkled, thinned, and often depigmented, and a central depression may be seen. Coalescence of smaller lesions can give rise to larger herniations. The examining finger sinks without resistance into a distinct pit with sharp borders as if into a hernia ring (buttonhole sign). The protrusion reappears as soon as the pressure from the finger is removed.

A

Anetoderma

83
Q

Histopathology: the collagen fibers within the dermis of affected skin appear normal. Perivascular lymphocytes are often present in all types. The predominant defect as revealed by elastic tissue stains is a focal partial or complete loss of elastic tissue in the papillary and/or midreticular dermis. There are usually some residual abnormal, irregular, and fragmented elastic fibers.

A

Anetoderma

84
Q

Rare acquired disorder of elastic tissue. It is characterized by patches and plaques of diffuse, fine, wrinkled skin, most often located on the trunk, neck, and arms. Characterized by asymptomatic, well-demarcated, or diffuse areas of fine wrinkling. Discrete perifollicular papules can be seen in some cases, leaving the hair follicle itself as an indented center. They are chronic and give the skin a prematurely aged appearance.

A

Middermal elastolysis

85
Q

Histopathology: shows a normal epidermis and, occasionally, a mild perivascular infiltrate in the dermis. The characteristic histology is seen on elastic tissue stains and reveals a selective band-like loss of elastic fibers in the middermis. There is preservation of normal elastic tissue in the superficial papillary dermis above, in the reticular dermis below, and along adjacent hair follicles.

A

Middermal elastolysis

86
Q

Are usually multiple, symmetric, well-defined linear atrophic lesions that follow the lines of cleavage. Initially, appear as red-to-violaceous elevated lines (rubra). Over time, the color gradually fades, and the lesions become atrophic, with the skin surface exhibiting a fine, white, wrinkled appearance (alba).

A

Striae

87
Q

Histopathology: show a decrease in dermal thickness and in collagen in the upper dermis. The collagen bundles are thinned and lie parallel to the epidermis, but they are also arranged transversely to the direction of the lesion.

A

Striae

88
Q

Topical treatments for striae Rubra

A

Tretinoin 0.1% cream
0.05% Tretinoin/20% Glycolic acid
10% Ascorbic acid/20% Glycolic acid

89
Q

Form of dermal atrophy that presents as one or several sharply demarcated depressed patches with no outpouching, usually on the back of adolescents or young adults. This disorder is more frequently encountered in women than in men, with a ratio of 6:1. The lesions are single or multiple and usually round or ovoid, ranging in size from a few centimeters to patches covering large areas of the trunk. The borders or edges of these lesions are sharply defined, and they are usually described as abrupt, “cliff drop” borders ranging from 1 to 8 mm in depth, although they can have a gradual slant.

A

Idiopathic atrophoderma of Pasini and Pierini

90
Q

Refers to dimple-like depressions at the follicular orifices. It can occur as an isolated defect of limited extent, in association with a variety of disorders in which hair follicles are plugged with keratin, or with rare genodermatoses. Distinctive ice-pick depressions around hair follicles can be seen most commonly on the back of the hands or feet and on the cheeks.

A

Follicular atrophoderma

91
Q

Multiple inflammatory symmetric papules on the cheeks, presumably centered around hair follicles, may precede the atrophic lesions. These papules then go on to develop pitted, atrophic, and depressed scars in a reticulated or honeycomb pattern.

A

Atrophoderma vermiculatum

92
Q

Characterized by follicular atrophoderma, milia, multiple basal cell carcinomas, hypotrichosis, and localized hypohidrosis. The follicular atrophoderma described as multiple ice-pick marks or patulous follicles can be found most commonly on the dorsa of the hands. It is inherited in an X-linked dominant fashion, and the gene has been linked to Xq24q27.

A

Bazex–Dupré–Christol syndrome

93
Q

X-linked dominant disorder that occurs only in girls because it is usually lethal in hemizygous males. The underlying molecular defect consists of mutations in the emopamil-binding protein gene at Xp11.23p11.22. The clinical manifestations include an ichthyosiform scaling erythroderma patterned along the lines of Blaschko that usually resolves during the first year of life and is replaced by bands of follicular atrophoderma.

A

Conradi–Hünermann syndrome

94
Q

Defined by a constricting band around a digit and is most common in tropic and subtropic latitudes occurring around the fifth toe or toes of people accustomed to walking barefoot

A

Ainhum

95
Q

Constrictions clinically mimic ainhum and are much more common in the developed world. It may be caused by (1) amniotic bands; (2) constrictions associated with keratotic disorders or those associated with infections or trauma; and (3) constriction by external forces such as hairs and threads.

A

Pseudoainhum

96
Q

Congenital constricting bands

A

Streeter bands

97
Q

A group of separately identified cutaneous disorders that occur in adult patients, most often in the setting of chronic kidney disease (CKD) or diabetes mellitus (DM). Characteristically manifests as round, umbilicated, skin-colored, erythematous or hyperpigmented papules and nodules with a central crust or keratotic plug, predominantly involving the extensor surfaces of the extremities and the trunk and histologically by the transepidermal extrusion of dermal components (collagen, elastin, and/or fibrin).

A

Acquired perforating disorders

98
Q

Well recognized as a potential adverse effect of prolonged d-penicillamine therapy. May present with papules in a serpiginous configuration, often with central atrophy, and typically occurring on the neck, trunk, and extremities.

A

Acquired elastosis perforans serpiginosa

99
Q

Common conditions associated with acquired Perforating Dermatosis

A

Chronic kidney disease
Diabetes mellitus (insulin-dependent and noninsulindependent)
Scabies