8 - 47 - ICHTHYOSIS

Question 1

hallmark of ichthyosis

Answer 1

scale

reflects altered differentiation of the epidermis

Question 2

A rare autosomal dominant genodermatosis. Patients are born with redness and blistering. The redness subsides over the subsequent weeks to months, and the skin develops corrugated hyperkeratosis, particularly over flexural areas (Fig. 47-18).

Answer 2

Question 3

Answer 3

Superficial Epidermolytic Ichthyosis

Question 4

In netherton syndrome, hair from multiple areas should be examined because only 20% to 50% of hair may be affected; the characteristic abnormality may be more commonly observed on _______

Answer 4

eyebrow hair

The hair defects may not be detectable at birth and may disappear with age

Question 5

Clinical features of LAMELLAR ICHTHYOSIS PHENOTYPE of autosomal recessive congenital ichthyosis (ARCI)

Answer 5

The LI phenotype of ARCI is apparent at birth, and the newborn usually presents encased in a collodion membrane (see Fig. 47-3). At this time, the skin may be red. Over time, the skin develops large, platelike scales, and most are centrally attached with raised borders. The scales tend to be largest over the lower extremities, where the large, platelike scales separated by superficial fissuring can lead to an appearance similar to that of a dry riverbed. During childhood and into adulthood, the degree of erythema may vary. Involvement of the palms and soles in LI is variable and ranges from minimal hyperlinearity to severe keratoderma.

Question 6

Progressive corneal opacification; either mild generalized hyperkeratosis or discrete erythematous plaques, which may be symmetric; neurosensory deafness

Answer 6

Keratitis-Ichthyosis-Deafness (KID) Syndrome; recessive has been reported

Question 7

Non-syndromic forms of Ichthyoses

Answer 7

Ichthyosis vulgaris (IV)
Recessive X-linked Ichthyosis (RXLI)
Keratinopathic Ichthyosis (KI)
Autosomal Recessive Congenital Ichthyosis (ARCI)

Question 8

Presents with congenital erythroderma, malformation of the auricle, and tapering of the digits which leads to the frequent clinical diagnosis of CIE.
In childhood, palmoplantar keratoderma develops, and the severity ranges from mild to severe.
Most individuals develop small islands of normal-appearing skin beginning in childhood (Fig. 47-20), although later presentation has also been reported.

Answer 8

ICHTHYOSIS WITH CONFETTI

Question 9

Heterogeneous; may have verrucous, firm, hyperkeratotic (hystrix) spines, often linearly arrayed in flexural creases; blisters; may have erythroderma and/or palmar/plantar keratoderma

Answer 9

Epidermolytic Ichthyosis

Question 10

mutation in TGM1 gene

Answer 10

ARCI Lamellar Ichthyosis

Question 11

An autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of keratinocytes, leukocytes, muscle, liver, fibroblasts, and other tissues with normal blood lipid levels

Answer 11

Question 12

An autosomal recessive disorder that includes a broad spectrum of clinical phenotypes linked by the characteristic features of **sulfur deficient, brittle hair **that exhibits alternating birefringence (tiger tail banding) when viewed under polarizing microscopy (Fig. 47-26).

Answer 12

Question 13

Associated with Trichorrhexis Invaginata

Answer 13

Netherton Syndrome

Question 14

Question 15

mutated gene in Epidermolytic ichthyosis

Answer 15

KRT1, KRT10

Protein: Keratin 1 or 10

Question 16

Large, platelike, brown scale over most of the body; accentuated on lower extremities; ectropion, eclabium, and alopecia. palmar/ plantar involvement varies

Answer 16

AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS (ARCI); LAMELLAR ICHTHYOSIS

Question 17

Differentiate Lamellar ichtyosis from Congenital Ichthyosiform Erythroderma (CIE)

Answer 17

In LI , one sees large, dark, platelike scales, and although infants may be red at birth, adults have little to no erythroderma (Figs. 47-4 to 47-6). In the more severe, classic presentation of LI, tautness of the facial skin leads to traction on the eyelids and lips, resulting in ectropion and eclabium. Scarring alopecia, most prominent at the periphery of the scalp, may be partly caused by traction at the hairline.

In contrast Congenital Ichthyosiform Erythroderma, has generalized redness and fine, white scales (eg, Figs. 47-7 and 47-9). Patients with classic CIE have little to no ectropion, eclabium, or alopecia.

Question 18

Mutations in SPINK5, encoding a serine protease inhibitor, cause ________ and confirm a role for proteolysis and protease inhibitors in normal epidermal differentiation.

Answer 18

Netherton Syndrome

Question 19

ABCA12 gene mutation

Answer 19

Harlequin Ichtyosis

Question 20

Answer 20

Multiple Sulfatase Deficiency

Question 21

Generalized fine to coarse hyperkeratosis; spastic diplegia; mental retardation; retinal glistening white dots

Answer 21

Sjögren-Larsson syndrome

Question 22

Markedly thickened skin with geometric, deep fissures; at birth survivors develop severe erythroderma

Answer 22

Harlequin Ichthyosis

Question 23

most common malignancy reported with acquired ichthyosis

Answer 23

Hodgkin Disease

Question 24

thickening of the skin with or without visible scale known as ___________

Answer 24

Keratoderma

Question 25

present with "tiger tail hair"

Answer 25

Question 26

Mutations in the gene encoding transglutaminase-1 , an enzyme that catalyzes the cross-linking of proteins and attachment of ceramides during the formation of corneocytes, are found in a large fraction of patients with ________________

Answer 26

Autosomal Recessive Congenital Ichthyosis (ARCI)

Question 27

A _________ is born encased in a translucent, parchment-like membrane that is taut and may impair respiration and sucking.

Answer 27

Collodion

Question 28

most common skin finding of Trichothiodystrophy

Answer 28

A survey of 112 cases reported in the literature found **ichthyosis** (65%) as the most common skin finding followed by **photosensitivity** (42%)

Question 29

what is elevated in the plasma of patients with REFSUM DISEASE

Answer 29

Question 30

2 diseases that should be considered in patients with atopy that is resistant to usual treatment (this is from Dr. Montenegro)

Answer 30

Netherton Syndrome Hyper-IgE Syndrome

Question 31

subtype of LI in which affected individuals develop the scaling typical of LI but limited to the bathing suit area

Answer 31

Bathing Suit Ichthyosis The distribution correlates with warmer areas of skin. Decreased transglutaminase is found in these areas, and unique, temperature-sensitive mutations in TGM1 have been identified in affected individuals.

Question 32

Erythematous, scaly plaques, symmetrically distributed over extremities, buttocks, and face; stabilize in early childhood; trunk tends to be spared

Answer 32

Progressive symmetric erythrokeratoderma

Question 32

**HYSTRIX** (verrucous, firm, hyperkeratotic) **SPINES** may be seen in

Answer 32

Epidermolytic Ichthyosis

Question 33

Answer 33

Ichthyosis vulgaris (FLG mutation). Small, centrally adherent scales generally spare intertriginous areas. Increased number and depth of palmar markings are usually noted.

Question 34

may present with "Scissor Gait" (may be due to spastic diplegia) (this is from Dr. Montenegro. not in FItz)

Answer 34

Question 35

comma-shaped corneal opacities

Answer 35

X-linked Recessive Ichthyosis

Question 36

Clinical features of Ichthyosis vulgaris

Answer 36

* The scale of IV is usually most prominent on the **extensor surfaces** of the extremities, with flexural sparing. * The diaper area tends to be spared. * There may be fine, white scales over large areas. Particularly on the lower extremities which are often the most severely involved area, the scales may be centrally attached, with “cracking” (superficial fissuring through the stratum corneum) at the edges.

Question 37

Answer 37

Chanarin-Dorfman Syndrome (Neutral Lipid Storage Disease)

Question 38

Non-syndromic forms of Ichthyoses

Answer 38

Ichthyosis vulgaris (IV) Recessive X-linked Ichthyosis (RXLI) Keratinopathic Ichthyosis (KI) Autosomal Recessive Congenital Ichthyosis (ARCI)

Question 39

Answer 39

Figure 47-15 Epidermolytic ichthyosis infantile presentation. A, Newborn showing blistering and erosions. B, Epidermolytic ichthyosis histology. The stratum corneum is thickened (hyperkeratosis), and there is prominent vacuolar degeneration of suprabasilar epidermis most marked at the granular layer.

Question 40

Generalized hyperkeratosis and figurate, migratory red patches

Answer 40

Question 41

Answer 41

Trichothiodystrophy

Question 42

Mutations in **FLG** result in reduced or absent filaggrin and decreased moisture binding in the stratum corneum of patients with _____________

Answer 42

Ichthyosis Vulgaris

Question 43

gene mutated in Erythrokeratodermia variabilis, Generalized type

Answer 43

GJB3, GJB4, GJA

Question 44

A rare, autosomal recessive disorder that presents at birth with an ichthyosis that may range from fine scaling to generalized hyperkeratosis. Erythema may be present at birth but tends to gradually clear by 1 year of age. Collodion-like membranes are rarely seen. The ichthyosis manifests as fine scale, large scale, or thickening of the stratum corneum without scale. Pruritus is common. Thickened areas may be yellow to brown in color and have a lichenified appearance with accentuated skin markings (Fig. 47-25).

Answer 44

Question 45

Answer 45

Question 46

Differentiate ichthyosis vulgaris from X-linked ichtyosis based on clinical features

Answer 46

IV tends to be associated with hyperlinear palms and soles, keratosis pilaris, and a family history of atopy. X-linked Ichthyosis tends to have more severe involvement with larger scale (Fig. 47-2), and commashaped, corneal opacities may be present in half of adult patients.

Question 47

gene mutated in Superficial epidermolytic ichthyosis

Answer 47

KRT2 Protein: Keratin 2, which is expressed in superficial epidermis

Question 48

Ichthyosis vulgaris is associated with

Answer 48

Keratosis pilaris Atopy

Question 49

SPINK5 gene mutation

Answer 49

Question 50

associated with cryptorchidism

Answer 50

X-linked recessive ichthyosis

Question 51

hallmark of ichthyosis

Answer 51

scale

Question 52

what is the mutation of Epidermolytic Ichthyosis

Answer 52

KRT1 and KRT10

Question 53

Premature delivery of infants with erythrodermic, edematous, caseous scaling skin resembling excessive vernix caseosa, evolves into dry, scaly skin with follicular accentuation with signs of atopy

Answer 53

Ichtyosis Prematurity Syndrome

Question 54

A rare disorder consisting of congenital hemidysplasia, ichthyosiform erythroderma, and limb defects, which is found almost exclusively in females.

Answer 54

It is a mosaic disorder featuring red scaly plaques intermixed with normal skin on one side of the body with minimal contralateral involvement. There may be bands of normal skin on the affected side (Fig. 47-24). Limb defects occur ipsilateral to the ichthyosis and range from digital hypoplasia to agenesis of the extremity. There may be punctate calcification of cartilage. Unilateral hypoplasia can involve the central nervous system and cardiovascular, pulmonary, renal, endocrine, and genitourinary systems.

Question 55

Answer 55

Ichthyosis Linearis Circumflexa

Question 56

Pathognomonic for Netherton Syndrome

Answer 56

Question 57

Answer 57

Refsum Disease

Question 58

Syndromic Forms of Ichthyosis

Answer 58

Question 59

Answer 59

Epidermolytic ichthyosis

Question 60

Answer 60

Question 61

Question 61

Localized hyperkeratotic plaques with figurate, migratory red patches

Answer 61

Erythrokeratodermia variabilis, Localized type

Question 62

Disorders Associated with Collodion Membrane

Answer 62

Question 63

may present with STIPPLED CALCIFICATIONS ON RADIOGRAPH

Answer 63

Question 64

Most patients of Netherton Syndrome have a specific hair shaft abnormality called ________.

Answer 64

Question 65

mutations in genes that encode the suprabasal epidermal keratins, keratins 1 and 10, cause ____________ when they affect the highly conserved encoded rod domains necessary for polymerization of keratin intermediate filaments.

Answer 65

Epidermolytic ichthyosis

Question 66

All patients with ____ have a characteristic corrugated scale that becomes accentuated in areas of body folds.

Answer 66

Question 67

A rare, progressive, degenerative disorder of lipid metabolism resulting from the failure to break down dietary phytanic acid and its subsequent accumulation in tissues.

Answer 67

Refsum Disease

Question 68

mutated gene in Ichthyosis vulgaris

Answer 68

FLG - absence of fillagrin

Question 69

Question 70

Ichthyosis linearis circumflexa or similar to congenital ichthyosiform erythroderma; trichorrhexis invaginata

Answer 70

Netherton Syndrome

Question 71

most common ichthyosis

Answer 71

Ichthyosis vulgaris

Question 72

Question 73

Answer 73

Question 74

features that may point to a diagnosis of X-linked ichthyosis

Answer 74

Question 75

Answer 75

Question 76

Answer 76

Question 77

gene mutated in CHILD Syndrome

Answer 77

NSDHL, EBP gene

Question 77

Thickening of the stratum corneum, evident either clinically or histologically, is termed __________

Answer 77

Hyperkeratosis

Question 78

Answer 78

Neonatal Ichtyosis - Sclerosing Cholangitis Syndrome

Question 79

Connexin Disorders

Answer 79

Erythrokeratodermia Variabilis et Progressiva (EKV) Keratitis-Ichthyosis-Deafness (KID) Syndrome

Question 80

Fine or centrally tacked-down scale with superficial fissuring; relative flexural sparing, worse on lower extremities; hyperlinear palms and soles

Answer 80

Ichtyosis Vulgaris

Question 81

gene mutated in Progressive symmetric erythrokeratoderma

Answer 81

LOR, GJB4 Protein: Loricrin, connexin 30.3

Question 82

there is a characteristic PUNGENT ODOR; associated with frequent skin infections

Answer 82

Epidermolytic Ichthyosis

Question 83

Diseases that will present with Collodion baby

Answer 83

Question 84

may have corneal opacities on the POSTERIOR capsule and delay of onset of progression of labor

Answer 84

X-linked recessive Ichthyosis