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FD9 > 72 - Genetic Disorders affecting Dermal Connective Tissue > Flashcards

72 - Genetic Disorders affecting Dermal Connective Tissue Flashcards

1
Q

A variety of genetically and clinically heterogeneous inherited conditions characterized by varying degrees of skin fragility and hyperextensibility, and joint hypermobility

A

Ehlers-Danlos syndromes

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2
Q

Most clinically significant EDS subtype because of the risk of arterial or major organ rupture

A

Vascular EDS

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3
Q

Overlap with joint hypermobility syndrome interferes with prevalence estimates, but it inclusive definitions are used, it may be the most common subtype of EDS

A

Hypermobility type

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4
Q

The skin in classical EDS patients is hyperextensible, but recoils easily to its normal position after stretching, in contrast to the skin in

A

Cutis laxa

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5
Q

Hyperextensibility is present if the skin can be stretched beyond _____ cm on the distal forearms and/or dorsal hands and beyond _____ cm at the neck, elbow, and/or knees

A

1.5

3

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6
Q

Joint hypermobility is frequent in cEDS and often greatest at the

A

Fingers and/or wrists

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7
Q

Chronic and excessive joint hypermobility frequently leads to

A

Early-onset osteoarthritis

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8
Q

Most patients with cEDS or hypermobile EDS are able to extend the tongue to touch the tip of the nose

A

Gorlin sign

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9
Q

Gorlin sign can be displayed by approximately _____% of individuals without inherited disorders of connective tissue

A

10

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10
Q

AR form of EDS resembling a mild version of cEDS

A

Classical-like EDS

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11
Q

Classic quadrad of vEDS

A

Characteristic facial appearance
Thin, transluscent skin with a prominent venous pattern
Extensive bruising or hematomas
Vascular or visceral rupture (or both)

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12
Q

The development of _____ before the age of 20 years can be a clinical indicator of vEDS

A

Superficial venous insufficiency

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13
Q

Have soft, velvety skin with occasional mild hyperextensibility but no fragility
Have abnormal skin, with changes similar to, yet more subtle than cEDS or vEDS

A

Hypermobility EDS

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14
Q

Used to distinguish hEDS skin from normal

A

Rubber glove skin test

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15
Q

Three distinct phases of clinical progression of hEDS

A

Hypermobility phase
Pain phase
Stiffness phase

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16
Q

More than 90% of cEDS cases are caused by AD mutations in the alpha1 or alpha2 chain of

A

Type V collagen

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17
Q

Type V collagen is a minor fibrillar collagen that relates

A

Collagen fibril diameter

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18
Q

Patients with features of cEDS exhibiting defective Type I collagen are at high risk for

A

Vascular rupture, similar to the complications of the vEDS subtype

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19
Q

Electron microscopy of the skin in EDS reveals

A

Thickened collagen fibrils

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20
Q

vEDS is associated with dominant negative mutations in the _____ gene, resulting in reduced amounts of _____ in the dermis, vessels, and viscera

A

Type III collagen

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21
Q

Type _____ collagen plays an important role in the integrity of the walls of both blood vessels and hollow organs, in addition to the upper dermis

A

III

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22
Q

Routine histopathologic examination from EDS

A

Typically normal

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23
Q

Electron microscopy demonstrates

A

Abnormalities in the appearance of collagen fibrils

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24
Q

The kyphoscoliotic and hypermobility forms of EDS must be distinguised from

A

Marfan syndrome

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25
Q

Molluscoid pseudotomors of the lower legs may mimic

A

Subcutaneous granuloma annulare

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26
Q

vEDS exhibits significant clinical similarities to _____, an aortic aneurysm syndrome caused by mutations in TGF-beta receptors 1 and 2

A

Loeys-Dietz syndrome type 2

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27
Q

Fatigue is present in more than 75% of EDS patients of most types. It appears most often in

A

hEDS

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28
Q

Marfan syndrome is a generalized connective tissue disorder exhibiting abnormalities of 3 primary organ systems

A

Ocular
Skeletal
CV

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29
Q

Ocular findings in Marfan syndrome

A

Typically lens dislocation

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30
Q

Skeletal findings in Marfan syndrome

A

Excessive extremity length
Loose joints
Anterior chest deformities
Kyphoscoliosis

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31
Q

CV findings in Marfan syndrome

A

Classically
Aortic aneurysm
Mitral valve redundancy

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32
Q

The “marfanoid habitus” is characteristically _____ (tall and thin), with a lower-body segment (pubic symphysis to floor) that is longer than the upper segment (height minus lower segment)

A

Dolichostenomelic

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33
Q

Distal bones are excessively long

A

Arachnodactyly

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34
Q

Sternal depression

A

Pectus excavatum

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35
Q

Sternal projection

A

Pectus carinatum

36
Q

Often detected during the newborn period

May be the first sign of Marfan syndrome

A

Dislocation of the hip

37
Q

Thumb extends well beyond the ulnar border of the hand when overlapped by the fingers

A

Thumb or Steinberg sign

38
Q

Thumb overlaps the fifth finger as they grasp the opposite wrist

A

Wrist or Walker-Murdoch sign

39
Q

Most common CV abnormality in Marfan syndrome

A

Medial necrosis of the aorta

40
Q

Death in Marfan patients usually occurs in adulthood as a result of CV sequelae, most commonly secondary to _____, leading to aortic dissection or rupture and pericardial tamponade

A

Dilation of the aortic root

41
Q

Most common cutaneous manifestation of Marfan syndrome

A

Lack of subcutaneous fat

Presence of striae

42
Q

Y/N: Pediatric patients often do not meet international criteria for the diagnosis if Marfan syndrome at the time of first examination

A

Yes

43
Q

Standard histopathology of affected skin in Marfan syndrome

A

Normal

44
Q

Electron microscopy findings in Marfan syndrome

A

Abnormal thickness, array, and shape of dermal collagen

45
Q

Marfan syndrome results from heterozygous mutations in the

A

Profibrillin 1 gene

46
Q

350-kDa glycoprotein that is a major component of extracellular matrix microfibrils, which are structural components of the zonular fibers of the suspensory ligament of the lens and associated with elastic fibers in the aorta and skin

A

Fibrillin

47
Q

Also known as Gronblad-Strandberg syndrome

A

Pseudoxanthoma elasticum

48
Q

Rare heritable ectopic mineralization disorder exhibiting progressive deposition of calcium hydroxyapatite on elastic tissue

A

Pseudoxanthoma elasticum

49
Q

Mode of inheritance of pseudoxanthoma elasticum

A

AR

50
Q

PXE is more severe in

A

Female patients

51
Q

Yellowish, flat-topped, discrete, and confluent papules in the skin creases of the sides and nape of the neck, perineum, axillae, umbilicus, and flexural folds with skin redundancy that increases with advancing age

A

PXE

52
Q

Cutaneous changes of PXE are often termed

A

Plucked chicken skin

53
Q

Dermatologic features of PXE generally begin in the ______ decade

A

Second

54
Q

Prominence of the horizontal and oblique mental creases (which separate the lower lip from the chin) prior to 30 years if age is highly specific for

A

PXE

55
Q

Atrophoderma reported in patients with PXE

A

Elastosis perforans serpiginosa

56
Q

Most common ophthalmologic finding in PXE

A

Angioid streaks

57
Q

Precede angioid streaks and are the more common ocular finding in children with PXE

A

Peau d’orange retinal changes

58
Q

Mutated gene in typical PXE

A

ABCC6

59
Q

Putative efflux transporter expressed primarily in the basolateral plasma membrane of liver hepatocytes and proximal tubules of the kidney, 2 sites not affected by PXE

A

ABCC6 protein

60
Q

The histologic changes on biopsy of lesional skin with PXE are diagnostic, showing

A

Distinctive broken curls of basophilic elastic fibers

61
Q

Electron microscopy of PXE shows

A

Calcification in a centripetal pattern with elastic fibers

62
Q

Most common forms of cutis laxa

A

Recessive

63
Q

Skin is inelastic and appears pendulous; hyperextensible, but does not resume or slowly resumes its normal shape after strerching
Bloodhound-like facial appearance
Signs of skin fragility, easy bruising, or abnormal scarring are typically absent in contrast to EDS

A

Cutis laxa

64
Q

Has been termed Walt Disney dwarfism
Loose skin acrally, as well as on the face and stomach
Oblique furrows from the lateral border of the supraorbital ridge to the outer canthus are a recently reported distinguishing finding

A

Gerodermia osteodysplastica

65
Q

Abnormalities in _____ synthesis, stabilization, or degradation may all lead to the clinical phenotype of CL

A

Elastic fiber

66
Q

Special stains for elastic tissue of skin biopsy specimens of CL demonstrate

A

Significantly decreased or absent dermal elastic fibers

Remaining fibers are often clumped, short, granular, and fragmented

67
Q

Involve the head and neck and progress in a cephalocaudal direction
Development of CL is preceded by an inflammatory eruption (urticaria, erythema multiforme, eczematous eruption) in approximately 50% of cases
Usually begins In adulthood

A

Type I-acquired CL

68
Q

Most frequent cause of death in acquired CL

A

Emphysema

69
Q

Postinflammatory elastolysis characterized by more localized, well-demarcated, nonpruritic erythematous plaques that extend peripherally and have a hypopigmented center

A

Type II-acquired CL (Marshall syndrome)

70
Q

Acquired CL may develop after drug exposure to

A

Penicillin
D-penicillamine
Isoniazid

71
Q

Acquired CL is one of the primary presenting features of _____, an AD condition resulting from mutations in gelsolin, an actin-modulating protein

A

Hereditary gelsolin amyloidosis (AGel amyloidosis)

72
Q

Generalized skin laxity and inguinal hernias in infants born to mothers who were administered D-penicillamine during pregnancy
Resolved during the first year of life

A

Neonatal CL

73
Q

Mode of inheritance of Bushcke-Ollendorff syndrome

A

AD

74
Q

Characteristic connective tissue nevi appear as collections of skin-colored to yellow papules or plaques (dermatofibrosis lenticularis disseminata) most commonly located on the buttocks, proximal trunk, and limbs

A

Buschke-Olendorff syndrome

75
Q

Histopathologic examination of lesional skin may show increased amounts of elastic tissue (elastoma) or collagen

A

Buschke-Olendorff syndrome

76
Q

Discrete spherical areas of increased radiodensity, most frequently noted in the epiphysed and metaphyses of long bone, pelvis, scapulae, carpal, and tarsal bones
Osteopoikilosis

A

Buschke-Olendorff syndrome

77
Q

Complications of Buschke-Olendorff syndrome

A

None reported

78
Q

Buschke-Olendorff syndrome results from loss-of-function mutations in

A

LEMD3 gene

79
Q

Also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease

A

Lipoid proteinosis

80
Q

Lipoid proteinosis is relatively common in

A

Namaqualand area of Northern Cape Province in South Africa

81
Q

Most reliable clinical signs of diagnosing LP

A

Hoarse voice

Thickened sublingual frenulum

82
Q

Earliest finding in LP

One of the most striking and consistent features

A

Hoarseness (noted as faint or weak cry)

83
Q

Beaded papules along the eyelid margins

Considered a pathognomonic clinical finding of LP

A

Moniliform blepharosis

84
Q

LP has been used as a model disorder for investigation of the function of the

A

Amygdala

85
Q

Mode of inheritance of LP

A

AR

86
Q

LP is caused by mutations in the gene encoding

A

ECM-1

87
Q

Light microscopic evaluation of lesional sections reveals deposition of amorphous eosinophilic material at the DEJ, perivascularly, and along adnexal epithelia
Deposition of hyaline material in the dermis, often perpendicular to the basement membrane

A

LP

FD9 (108 decks)

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