Skin Development Flashcards
How do you get Piebaldism? What are the clinical features?
- autosomal dominant, mutation in the KIT proto-oncogene
- Impaired migration of melanocytes
- clinical:
- depigmented patches (congenital-present at birth) often with speckles within
- stable, nonprogressive (remember vitiligo is progressive)
- white forelock typical
How do you distinguish vitiligo from piebaldism?
History! Piebaldism is congenital and vitiligo is not
What causes Waardenburg Syndrome and what is associated with it?
- rare disease, mutliple genes implicated in abnormal development of melanocytes
- achromia (a white patch of hair or skin) with other features
- deafness
- heterochromia irides (eyes are 2 colors)
- dystopia canthorum (wide distance between eyes)
What is port-wine stain?
- malformed, ectactic, dilated capillary to venule sized blood vessels. usually called capillary malformation.
- always present at birth, 0.3-0.6% of newborns
- tend to darken and thicken over time
- distributed along V1, V2, V3
How are port-wine stains distributed?
V1-ophthalmic branch, may extend to ocular conjuctiva
V2-maxillary branch
V3-mandibular branch, may extend o oral mucosa
What is Sturge Weber Syndrome? What are the symptoms?
- most commonly associated port wine stains in the V1 dermatome (port wine stains in this region have other problems hence why its named)
- Neurological
- seizures
- developmental delay
- migraine headaches
- tam track calcifications (calcification of the occipital and/or temporal cortex)
- Ocular findings
- congenital glaucoma
- increase choroidal vascularity (tomato ketchup spot)
WHat is infantile hemangioma?
most common vascular tumor, 4-5%
composed of proliferating endothelial-like cells that become clinically visible in the first months of life
Describe the Infantile Hemangioma growht cycle
- at bith: white flat patch with fine pink-red vessels. pallor due to vasoconstriction
- 1-2 wks: proliferation begins
- growth pahse: variable, 3-9month
- then slowly involutes
What is the difference between involution and resolution?
involution is when a scar forms bc its too big, otherwise it resolves
What is PHACE syndrome
- P: Posterior fossa abnrmalities
- H: hemangioma (segmental)
- A: Arterial Anomalies
- C: Cardiac Anomalies
- E: Eye anomalies
- S: Sternal clefting/ supraumbilical raphe
WHat is the significane of ectodermal dyspasia
- over 150 rare syndromes have alterations in 2 or more structures that derive from the embryonic ectoderm
- developmental defects in hair, teeth, nails, sweat glands, and the lends of the eye
What is the pathogenesis of Hypohidrotic ectodermal dysplasia?
- most often X-linked recessive (most patients are males)
- most common Ectodermal dysplasia
- Ectodermal signaling pathway
- ectodysplasin-A1 (EDA-A1)
- EDA-A1 receptor (EDAR)
- EDAR associated death domain (EDARADD)
What are the clinical features of HED?
- square forehead with frontal bossing
- flattened nasal bridge
- low-lying ears
- skin is thin and dry
- sparse hair
- hypo-anodonthia/peg teeth
- decreased ability to sweat
WHat are the recommendations for HED?
avoid overheating
consult dentistry
recommend families ocntact National Foundation for Ectodermal Dysplasias
Epidermis and Epidermal derivatives originate from ___________
surface ectoderm