Developmental anomalies Flashcards
Categorise and describe developmental anomalies
Describe how the neural tube closes
Draw a picture of how neural tube closes
Describe congenital head and neck midline lesions
1) Midline nasal mass/pitt may have intracranial connection
2) skullbones develop in 2nd month of gestation with diverticula which can have contact with overlying dermis
-inferior to prenasal space (intranasal)
-anterior through nasofontanelle into glabella (extranasal)
- Depending on content of lesions and intra-cranial connection extension a dermoid cyst or cephalocele or nasal glioma result
3) Biopsy/fna contra-indicated
4) need Radiology investigations first (both MRI and CT may be needed)
Differential diagnosis of nasal masses presenting at birth or during infancy
Draw a picture of common sites for developmental anomalies of head and neck
Discuss midline lesions of the scalp
Describe your approach to a congenital midline lesions/scalp nodule that has concerning features
Differential diagnosis and evaluation of a hair collar sign
Describe sinus pericrani
Describe NEVUS PSILOLIPARUS
Describe the dermoid cyst
Describe cephalocele
Describe nasal glioma
Describe midline cervical clefts
Describe midline lesions of the spine
1) Abnormal fusion of dorsal midline structure during embryologic development
-open spinal dysraphism (exposed neural tissue)
-closed spinal dysraphism (skin-covered malformation)
2) If diagnosis is delayed can cause - tethered cord shndrome
-conjs medullaris normally in a adult position of L1-L3 at age 3 months js low lying/mobile
-back pain, urinary incontinence, motor and sensory deficits of lower limbs , orthopaedic dedormities
3) midline cutaneous spinal lesions MAY be a clue, eap if lumbosacral area. Hypertrichosis “faun tail” is the most common skin markers id spinal dysraphism at birth - V shaped, course, silky hair in dorsal midline
4) Lumbosacral lipomas are skin lesions most commonly a/w spinal dysraphism
5) Infantile hemangiomas + vascular malformations can point to spinal dysraphism on/near dorsal midline (increased risk if lareger/ulcerated)
6) LUMBAR syndrome
L-lower body/lumbosacral hemangiomas+lipomas/other skin signs like tags
U - urogenital anomalies + ulceratik.
M - myelopathy
B - bony deformities
A - anotectal/arterial abnormalities
R - Renal abnormalities
CLUES: a telangiectatic patch over spinal defect may be a infantilw hemangioma
If you see lipoma and hemangioma together = high risk!
Dont cut it/biopsy before underlying abn not excluded!!
Skin lesions of Spinal axis associated with dysraphism
Approach to a patient with cutaneous signs of spinal dysraphism
Describe the clinical features of aplasia cutis congenita
Describe the histology of aplasia cutis congenita
Describe the differential diagnosis of aplasia cutis congenita
Treatment of aplasia cutis congenita
Name the typical sites of aplasia cutis congenita
Discuss the classes/classification scheme of aplasia cutis congenita
Name 3 types of lip pitts
Discuss accessory tragi
Discuss ear pitts
Discuss Congenital Cartilaginous Rests of the Neck
Discuss branchial cleft cyst, fistulas, sinusses
Discuss Thyroglossal Duct Cysts and Bronchogenic Cysts
Discuss Omphalomesenteric Duct Cysts and Urachal Cysts
Discuss Rudimentary Supernumerary Digits (Rudimentary Polydactyly
Discuss Supernumerary Nipples and Other Accessory Mammary Tissue
Discuss ABSENT, HYPOPLASTIC OR ANOMALOUS NIPPLES
1) Can be isolated or a/w syndromes
2) Poland anomaly
- hypoplastic/absent nipple
-ipsilateral aplasia of pectoralis major
-patchy alopecia of axillary hair
-symbradactly
3) Beckers nevus
-ipsilateral hyperplasia of nipple, breast, pec major
4) absent or hypoplastic nipples can be a/w
- ectodermal dysplasia
-scalp-ear-nipple syndrome
-ulner mammary syndrome
-Blomstrand chondrodysplasia (lack of nipples)
5) Inverted nipples - most common AD inherited but can be a/w glycosamation type IA
6) Widely spaced nipples can be a/w
-Noonan syndrome
-Turner syndrome
-Renal hypoplasia
-chromosomal abnormality
Discuss SKIN DIMPLES
Discuss CONGENITAL MALFORMATIONS OF THE DERMATOGLYPHS
Discuss AMNIOTIC BAND SEQUENCE AND DISORGANIZATION SYNDROME
