ectodermal dysplasia, white spongy nevus

1. Skin diseases

2. Rash

3. Intertriginous

4. Serpiginous

5. Target/Irislesion

6. Classification of skindiseases
– Genedermatosis – hereditary skin disorders
• Genekeratosis – alteration in normal keratinization
– With genetic origin (classified under skin diseases)
– Without genetic origin (not classified in skin
diseases)
– Vesiculobullous diseases
• Lesions genetically transmitted
• Lesions without hereditary pattern

7. Hereditary Ectodermal Dysplasia

8. • Ectodermal derivatives affected
• Primarily Skin, Hair, Nails, Eccrine Glands and TEETH
• Congenital, Diffuse and Non-progressive disease
• Two types:
– Hypohidrotic Ectodermal Dysplasia (Anhidrotic)
– Hidrotic Ectodermal Dysplasia (Clouston Syndrome)
• Can be seen associated with cleft lip and palate

9. Etiology
• Inherited aberrant development of ectodermal derivatives
in early embryonic life
• Hypohidrotic ED –
X-linked . ED1 gene responsible.
Reduced expression of Epidermal growth factor seen
• Hidrotic ED –
Gene GJB6 which encodes for Connexin-30 is
responsible
• ED Associated with Cleft-lip & Cleft Palate –
 Gene PVRL1, encoding Cell-to-cell adhesion molecule /
herpes virus receptor

10. Clinical Features
• Whites are more affected than other races
• X-linked Hypohidrotic ED is expressed in males and
females can show Lyonization
• Dental, hair and nail abnormalities evident during
infancy
• Hair:
– Reduction in hair follicles, Sparse hairs, short, fine
and dry hairs
– Hair bulbs maybe distorted, bifid and small
• Sweat glands could be absent, sparse or rudimentary
(hypohidrotic type)

11. • Mucous glands could be absent in upper respiratory tract,
bronchi, esophagus and duodenum
• Hypoplasia of salivary glands & lacrimal glands
• Abnormal shaped teeth or Hypodontia or Anodontia
• Nails are brittle, thin, abnormally shaped
• Lack of breast development, hearing or vision maybe
noticed
• Cleft-lip, cleft-palate , missing fingers and toes can also be
noticed

12. Hypohidrotic (anhidrotic) ED
• Christ-Siemens-Touraine Syndrome
• X-linked recessive (rare autosomal recessive & dominant
forms also seen)
• Hypohidrosis, Hypotrichosis, Onychodysplasia, Abnormal
Dentition

13. Hypohidrotic (anhidrotic) ED
• Typical face:
– Frontal bossing
– Hyperpigmented
skin around eyes
– Saddle nose
– Sunken cheeks
– Thick Everted lips
– Wrinkled skin
– Large low set ears

15. Oral Manifestations
• Both dentitions are affected
• Anodontia or Hypodontia
• Malformation of teeth
• Truncated or cone shaped teeth
• Growth of jaws normal inspite of anodontia
• High palatal arch and cleft palate
• Reduced vertical dimension which appears as protruding
lips
• Protruberant lips maybe dry, cracked showing pseudo-
rhagades
• Hypoplastic salivary glands manifesting as Xerostomia
• Hypoplasia of nasal and pharyngeal glands

17. Histological Findings
• Reduction in number of Sweat Glands, Hair follicles &
Sebaceous Glands
• Thin & flattened epidermis
• Few and poorly developed or rudimentary sweat glands
• Reduced number of mucous glands in upper respiratory tract
and bronchi
• Salivary gland ducts show ectasia and inflammatory changes

18. Hidrotic ED
• Clouston syndrome
• Autosomal dominant
• Nail dystrophy
– Thickened nails, Discolored, persistant paronychial
infections
• Hair defects
– Sparse, Fine, and Brittle hairs
– Thinned or absent eyebrows
• Palmoplantar keratosis
• NO SPECIFIC DENTAL DEFECTS SEEN

19. Petechiae

20. Macule

21. Ulcer

22. White Spongy Nevus
Cannon’s Disease
Congenital Leukokeratosis

23. Clinical Features
• Hereditary with autosomal dominant inheritance
• No definite sex predilection
• Congenital asymptomatic condition that can sometimes
appear in infancy, childhood or adolescence
• Widespread oral lesions affecting
– Cheeks
– Palate
– Gingiva
– Floor or mouth
– Portions of tongue
• Thickened and folded mucosa which can show corrugation.
• Soft and Spongy texture with peculiar white opalescent hue
• Ragged white mucosa can be removed by gentle rubbing

26. Histological Features
• Thickened epithelium showing hyperparakeratosis and
acanthosis
• Parakeratin plugging running deep into the spinous cell
layer is seen
• Cells of entire spinous cell layer show Spongiosis sometimes
extending upto the surface
• Submucosa shows mild inflammatory cell infiltration.
• Ragged white mucosa can be removed by gentle rubbing