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Fitzpatrick's Dermatology, 9th Edition (Chapter-based Decks) > 131: Ectodermal Dysplasias > Flashcards

131: Ectodermal Dysplasias Flashcards

1
Q

What are the major ectodermal structures affected in ectodermal dysplasias?

A

The major ectodermal structures affected in ectodermal dysplasias include hair, teeth, nails, and sebaceous and sweat glands.

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2
Q

What are the clinical features of hypohidrotic ectodermal dysplasia?

A

Clinical features include hypotrichosis, hypohidrosis, hypodontia, skin abnormalities, facial features, and other features such as intellectual disability and eczema.

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3
Q

What is the mode of inheritance for hypohidrotic ectodermal dysplasia?

A

Hypohidrotic ectodermal dysplasia can be inherited in several ways: X-Linked, Autosomal Dominant, Autosomal Recessive, and HED with immune deficiency.

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4
Q

What are the potential complications associated with hypohidrotic ectodermal dysplasia?

A

Potential complications include respiratory issues, gastrointestinal issues, and growth issues.

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5
Q

What is the significance of the ectodysplasin signal transduction pathway in hypohidrotic ectodermal dysplasia?

A

Mutations in this pathway lead to interruption of interaction between epithelial cells and underlying mesenchyme.

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6
Q

What is the first step in diagnosing ectodermal dysplasia?

A

To determine the presence of sweating (hidrotic) or absence of sweating (hypohidrotic/anhidrotic).

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7
Q

What is the most common variant of hypohidrotic ectodermal dysplasia?

A

X-Linked HED (Christ-Siemens-Touraine Syndrome).

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8
Q

What are some facial features associated with hypohidrotic ectodermal dysplasia?

A

Common facial features include frontal bossing, depressed midface, saddle nose, and everted lips.

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9
Q

What is the epidemiology of hypohidrotic ectodermal dysplasia?

A

It occurs in 1 in 5,000 to 100,000 births across all racial groups.

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10
Q

What are some ENT and lung issues associated with hypohidrotic ectodermal dysplasia?

A

Issues include thick nasal secretions, sinusitis, recurrent respiratory infections, and increased frequency of asthma.

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11
Q

What is the genetic mutation associated with XLHED and its role?

A

XLHED is associated with an XLR mutation of EDA1 on Xq12-q13.1, which encodes the triggering ligand molecule ectodysplasin-A.

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12
Q

What are the clinical features of Hidrotic Ectodermal Dysplasia?

A

Clinical features include normal sweating and teeth, sparse wiry pale hair with progressive alopecia, and nail abnormalities.

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13
Q

What is the management approach for patients with HED?

A

Management includes maintenance of cool ambient temperatures, dental restoration, management of ENT complications, and recombinant ectodysplasin protein injections.

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14
Q

What is the genetic basis of P63-related ectodermal dysplasia syndromes?

A

They are caused by AD mutations of TP63 on 3q27, which encodes the p63 transcription protein.

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15
Q

What are the variants associated with P63-related ectodermal dysplasia syndromes?

A

Variants include AEC syndrome, Limb-mammary syndrome, ADULT syndrome, and EEC3 syndrome.

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16
Q

What is the prognosis for infants with HED?

A

Infants with HED are at increased risk of death due to hyperthermia and potentially other features of the disorder.

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17
Q

What is the genetic cause of Hidrotic Ectodermal Dysplasia?

A

It is caused by autosomal dominant mutations in the GJB6 gene, which encodes the intercellular junction protein connexin 30.

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18
Q

What diagnostic methods are used for Ectodermal Dysplasias?

A

Methods include panoramic view of the jaw, sweat test, skin biopsy, genetic testing, and histopathology.

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19
Q

What is the significance of the IKBKG mutation in HED with immune deficiency?

A

The IKBKG mutation on Xq28 encodes NF-kappa B cytoplasmic inhibitor, essential for immune function.

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20
Q

What management strategies should be implemented for a patient with recurrent upper respiratory infections and HED?

A

Strategies include maintaining cool ambient temperatures, dental restoration, managing ENT complications, and considering recombinant ectodysplasin protein injections.

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21
Q

What is the likely diagnosis for a child with sparse wiry pale hair and palmoplantar hyperkeratosis?

A

The likely diagnosis is hidrotic ectodermal dysplasia (Clouston syndrome), caused by autosomal dominant mutations in the GJB6 gene.

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22
Q

What additional clinical features might be present in a patient with a mutation in the IKBKG gene?

A

Additional features may include immune deficiency, recurrent infections, and eczema.

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23
Q

What are the clinical features of Rapp-Hodgkin syndrome?

A

Features include characteristic facial features, cleft palate, hypodontia, malformed auricles, and recurrent otitis media.

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24
Q

What distinguishes Rapp-Hodgkin syndrome from other ectodermal dysplasias?

A

It includes characteristic facial features such as a short nasal columella and maxillary hypoplasia.

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25
Q

What are the management strategies for Ankyloblepharon-Ectodermal Defects-Clefting Syndrome?

A

Strategies include use of light emollients, surgical lysis for ankyloblepharon, ocular hygiene, and a team approach for clefting repair.

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26
Q

What are the clinical features of Ectrodactyly-ED-Cleft Lip/Palate (EEC) syndrome?

A

Features include hair abnormalities, nail dystrophy, dry skin, ectrodactyly, and cleft palate.

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27
Q

What is the differential diagnosis for Ectrodactyly-ED-Cleft Lip/Palate (EEC) syndrome?

A

Differential diagnoses include odontotrichomelic syndrome, aplasia cutis congenita, and AEC syndrome.

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28
Q

What are the ectodermal features associated with Ankyloblepharon-Ectodermal Defects-Clefting Syndrome?

A

Features include collodion membrane at birth, dry thin skin, and variable nail dystrophy.

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29
Q

What are the clinical features of Ankyloblepharon-Ectodermal Defects-Clefting Syndrome?

A

Features include shiny red, cracking skin, chronic erosive dermatitis, and sparse body hair.

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30
Q

What is the main clinical difference between Rapp-Hodgkin syndrome and Ankyloblepharon-Ectodermal Defects-Clefting Syndrome?

A

Rapp-Hodgkin syndrome includes characteristic facial features, while AEC does not.

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31
Q

What are the management requirements for Ectrodactyly-ED-Cleft Lip/Palate Syndrome?

A

Requires a team approach for treatment of orofacial clefting, ophthalmologic issues, and limb defects.

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32
Q

What are the differential diagnoses for Ankyloblepharon-Ectodermal Defects-Clefting Syndrome?

A

Differential diagnoses include EEC syndrome, epidermolysis bullosa, and congenital ichthyosis.

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33
Q

What is a major distinguishing feature of EEC syndrome?

A

Ectrodactyly.

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34
Q

What are the differential diagnoses for Ankyoblepharon-Ectodermal Defects-Clefting Syndrome?

A

EEC syndrome, epidermolysis bullosa, congenital ichthyosis, and CHANDS.

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35
Q

What management strategies should be employed for a patient with AEC syndrome who has recurrent bacterial scalp infections?

A

Management includes wound care for the scalp, dilute bleach or other antimicrobial soaks, and surgical lysis for ankyloblepharon if necessary.

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36
Q

What diagnostic and management steps should be taken for a patient with EEC syndrome who presents with genitourinary abnormalities?

A

Diagnostic steps include renal ultrasonography and a high index of suspicion for urinary tract problems. Management requires a team approach, including treatment of orofacial clefting, ophthalmologic care, and addressing limb defects.

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37
Q

What is the feature called when a patient with AEC syndrome has strands of skin between the eyelids?

A

This feature is called ankyloblepharon filiforme adnatum (AFA), and it may require surgical lysis.

38
Q

What is the mode of inheritance of EEC syndrome?

A

The mode of inheritance is autosomal dominant.

39
Q

What are the clinical features of Odonto-onycho-dermal dysplasia (OODD)?

A
  • Severe hypodontia to anodontia of the permanent teeth (most consistent)
  • Tongue: Smooth, decreased fungiform and filiform papillae
  • Nails: Dystrophic, congenital anonychia
  • Hair: Absent at birth, dry, thin, sparse eyebrows
  • Skin: Palmar erythema, palmoplantar hyperkeratosis, keratosis pilaris, palmoplantar hyperhidrosis, hypohidrosis on other body sites
40
Q

What is the management approach for Schopf-Schulz-Passarge Syndrome (SSPS)?

A
  • Restorative dentistry
  • Monitor for potential increased risk of nonmelanoma skin cancer in SSP patients
41
Q

What are the clinical features of Focal Dermal Hypoplasia (Goltz Syndrome)?

A
  • Skin: Linear, punctate, streaky cribriform atrophy with telangiectasia along the lines of Blaschko
  • Eyes: Microphthalmia, colobomas
  • Teeth: Oligodontia, tooth dysplasia, enamel defects
  • Skeletal: Vertical banding of bones, syndactyly, ectrodactyly, asymmetry, oligodactyly, short stature
  • Intellectual disability
  • Possible cardiac defects, abdominal wall defects, renal malformations
42
Q

What are the stages of skin lesions in Incontinentia Pigmenti?

A

Stage | Description |
|——-|————-|
| Stage I | Perinatal inflammatory stage with erythema, vesicles, and pustules lasting for several days to weeks |
| Stage II | Verrucous and hyperkeratotic papules persistent for several weeks to months, lasting up to years |
| Stage III | Hyperpigmentation presenting around 6 months of age, persisting for several years into adulthood |
| Stage IV | Hypopigmentation and atrophy in previously affected areas

43
Q

What are the differential diagnoses for Focal Dermal Hypoplasia?

A
  • Conradi–Hünermann syndrome (chondrodysplasia punctata)
  • Incontinentia pigmenti
  • Microphthalmia and linear skin defects/microphthalmia
  • Dermal aplasia
  • Sclerocornea (MIDAS)
44
Q

What genetic mutation is associated with WNT10A disorders?

A

A mutation of WNT10A (wingless-type MMTV integration site family, member 10A) on 2q35.

45
Q

What are the two variants of WNT10A disorders?

A

Odonto-onycho-dermal dysplasia (OODD) and Schopf-Schulz-Passarge Syndrome (SSPS).

46
Q

What is a common clinical feature of Odonto-onycho-dermal dysplasia (OODD)?

A

Severe hypodontia to anodontia of the permanent teeth.

47
Q

What skin condition is associated with Schopf-Schulz-Passarge Syndrome (SSPS)?

A

Eyelid hidrocystomas plus OODD findings.

48
Q

What is a significant risk for patients with Schopf-Schulz-Passarge Syndrome (SSPS)?

A

Potential increased risk of nonmelanoma skin cancer.

49
Q

What is the epidemiology of Focal Dermal Hypoplasia (Goltz Syndrome)?

A

200 case reports.

50
Q

What are some clinical features of Focal Dermal Hypoplasia (Goltz Syndrome)?

A

Linear, punctate, streaky cribriform atrophy with telangiectasia, atrophy, and fat herniation.

51
Q

What is the epidemiology of Incontinentia Pigmenti?

A

1 in 50,000 to 150,000 newborns.

52
Q

What are the four stages of skin lesions in Incontinentia Pigmenti?

A

Stage I: Perinatal inflammatory stage; Stage II: Verrucous and hyperkeratotic papules; Stage III: Hyperpigmentation; Stage IV: Hypopigmentation and atrophy.

53
Q

What are some ocular features associated with Incontinentia Pigmenti?

A

Retinal neovascularization, strabismus, cataracts, optic atrophy, and retinal pigmentary abnormalities.

54
Q

What genetic mutation is associated with odonto-onycho-dermal dysplasia (OODD)?

A

OODD is associated with autosomal recessive mutations in the WNT10A gene, which mediates catenin-mediated specific intracellular signaling.

55
Q

What is the genetic etiology of focal dermal hypoplasia (Goltz syndrome)?

A

Focal dermal hypoplasia is caused by X-linked dominant mutations in the PORCN gene, which is involved in membrane targeting and secretion of Wnt proteins necessary for embryonic tissue development.

56
Q

What are the stages of skin lesions in incontinentia pigmenti?

A

Stage I (perinatal inflammatory stage with erythema, vesicles, and pustules), Stage II (verrucous and hyperkeratotic papules), Stage III (hyperpigmentation), and Stage IV (hypopigmentation and atrophy).

57
Q

What histopathological findings are expected in a patient with OODD?

A

Histopathological findings include orthokeratosis, hyperkeratosis, hypergranulosis, and mild acanthosis.

58
Q

What additional systemic features might be present in a patient with focal dermal hypoplasia?

A

Additional systemic features may include cardiac defects, abdominal wall defects, and renal malformations.

59
Q

What CNS manifestations might be present in a patient with incontinentia pigmenti?

A

CNS manifestations may range from a single seizure to encephalopathy, ischemic stroke, and significant developmental delay.

60
Q

What is the mode of inheritance of odonto-onycho-dermal dysplasia (OODD)?

A

The mode of inheritance is autosomal recessive.

61
Q

What biopsy findings are expected in a patient with focal dermal hypoplasia?

A

Biopsy findings include dermal hypoplasia and increased capillaries in the papillary dermis.

62
Q

What is the mode of inheritance of incontinentia pigmenti?

A

The mode of inheritance is X-linked dominant.

63
Q

What hair changes are expected in a patient with OODD?

A

Hair changes include absent hair at birth, dry and thin hair, and sparse eyebrows.

64
Q

What skeletal features might be present in a patient with focal dermal hypoplasia?

A

Skeletal features include vertical banding of the bones (osteopathia striata), syndactyly, ectrodactyly, asymmetry, and short stature.

65
Q

What ocular features might be present in a patient with incontinentia pigmenti?

A

Ocular features include retinal neovascularization, strabismus, cataracts, optic atrophy, and retinal pigmentary abnormalities.

66
Q

What are the major and minor diagnostic criteria for X-linked dominant IKBKG syndrome?

A

Major criteria include any of the 4 stages of skin lesions.
Minor criteria include:
- Dental, ocular, CNS, hair, nail, palate, breast, and nipple anomalies
- Family history
- Multiple male miscarriages
- Histopathologic skin findings

67
Q

What is the management approach for Tricho-Dento-Osseous (TDO) syndrome?

A

Management includes:
1. Dental care for enamel hypoplasia and taurodontism.
2. Symptom management for skeletal features such as increased bone density.
3. Genetic testing for diagnosis.

68
Q

What are the clinical features of Tooth and Nail Syndrome (Witkop Syndrome)?

A

Clinical features include:
- Nail: Thin, small, and friable with koilonychia at birth; toenails more severely involved than fingernails.
- Teeth: Usually unaffected, may be small; secondary teeth may fail to erupt, with missing mandibular incisors, second molars, and maxillary canines.
- Etiology: AD mutation of MSX1 on 4p16.1.

69
Q

What are the clinical features of Oculo-Dento-Digital Dysplasia (ODDD)?

A

Clinical features include:
- Hair: Sparse, dry, slow-growing scalp hair with absent or sparse eyelashes.
- Teeth: Enamel hypoplasia resulting in small, yellow, and friable teeth prone to decay.
- Eyes: Short palpebral fissures with microcornea and/or microphthalmia.
- Hands: Camptodactyly of the fourth and fifth fingers.
- Skeletal: Hyperostosis of the skull, broad ribs and clavicles, and abnormal trabeculation of the long bones.

70
Q

What are the variants of Tricho-Rhino-Phalangeal Syndrome and their clinical features?

A

Variants:
1. TRPS I: Sparse hair, prominent nose, receding chin, cone-shaped epiphyses, hip malformations, short stature.
2. TRPS II: Features of TRPS I plus multiple exostoses type 1 and intellectual disabilities.
3. TRPS III: Features of TRPS I plus severe brachydactyly and more pronounced short stature.

71
Q

What is the etiology of the condition associated with IKBKG mutation?

A

X-linked dominant, IKBKG (also called NEMO), Xp28, encodes the I-kappa-B kinase gamma subunit protein involved in cell protection from apoptosis.

72
Q

What are the major diagnostic criteria for the condition related to IKBKG mutation?

A

Major criteria include any of the 4 stages of skin lesions.

73
Q

What is a common clinical feature of Tooth and Nail Syndrome (Witkop Syndrome)?

A

Thin, small and friable nails, koilonychia at birth.

74
Q

What is the etiology of Tooth and Nail Syndrome?

A

AD mutation of MSX1 on 4p16.1, which encodes the transcription factor Msx1.

75
Q

What are the clinical features of Tricho-Dento-Osseous (TDO) Syndrome?

A

Kinky, extremely curly hair; enamel hypoplasia, hypocalcification, and taurodontism; thickened nails with splitting.

76
Q

What is the management for Oculo-Dento-Digital Dysplasia (ODDD)?

A

Dental and eye care.

77
Q

What are the clinical features of Tricho-Rhino-Phalangeal Syndrome?

A

Sparse hair, prominent nose, receding chin, cone-shaped epiphyses, hip malformations, and short stature.

78
Q

What is the etiology of Tricho-Rhino-Phalangeal Syndrome?

A

AD mutation of TRPS1 on 8q23.2.

79
Q

What is a common management strategy for Tricho-Rhino-Phalangeal Syndrome?

A

Growth hormone treatment, otoplasty, and rhinoplasty.

80
Q

What genetic mutation is responsible for TDO syndrome?

A

TDO syndrome is caused by autosomal dominant mutations in the DLX3 gene, which encodes the transcription factor homeobox protein DLX-3.

81
Q

What is the genetic etiology of oculo-dento-digital dysplasia (ODDD)?

A

ODDD is caused by autosomal dominant mutations in the GJA1 gene, which encodes connexin 43, a connexin protein of the intercellular junction.

82
Q

What are the three variants of tricho-rhino-phalangeal syndrome (TRPS)?

A

The three variants are TRPS I (sparse hair, prominent nose, receding chin, cone-shaped epiphyses), TRPS II (features of TRPS I plus multiple exostoses and intellectual disabilities), and TRPS III (features of TRPS I plus severe brachydactyly and pronounced short stature).

83
Q

What skeletal features are associated with TDO syndrome?

A

Skeletal features include increased bone density of the long bones and skull, craniosynostosis, and dolichocephaly.

84
Q

What other skeletal abnormalities might be present in a patient with ODDD?

A

Other skeletal abnormalities include hyperostosis of the skull, broad ribs and clavicles, and abnormal trabeculation of the long bones.

85
Q

What skeletal features might be present in a patient with TRPS?

A

Short stature and hip malformations.

86
Q

What skeletal abnormalities might be present in a patient with oculo-dento-digital dysplasia (ODDD)?

A

Other skeletal abnormalities include hyperostosis of the skull, broad ribs and clavicles, and abnormal trabeculation of the long bones.

87
Q

What genetic mutation is associated with tricho-rhino-phalangeal syndrome (TRPS I)?

A

TRPS I is associated with autosomal dominant mutations in the TRPS1 gene on 8q23.2.

88
Q

What dental features are associated with tricho-dento-osseous (TDO) syndrome?

A

Dental features include enamel hypoplasia, hypocalcification, and taurodontism.

89
Q

What dental features might be present in a patient with oculo-dento-digital dysplasia (ODDD)?

A

Dental features include enamel hypoplasia, resulting in small, yellow, and friable teeth prone to decay.

90
Q

What variant of tricho-rhino-phalangeal syndrome (TRPS) is associated with multiple exostoses and intellectual disabilities?

A

This is TRPS II.

Fitzpatrick's Dermatology, 9th Edition (Chapter-based Decks) (48 decks)

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