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Dermatology
Developmental Anomalies
Built from Dermatology, 5th Edition
What’s inside
4 sections · 145 slides
Overview
- What developmental anomalies are
- Roadmap
The Midline Lesion
Marks along the body's midline can be a clue to what is happening underneath the skin
- How the neural tube closes
- Five sites of neural tube closure
- Why the junction sites matter
- Common sites of facial and neck anomalies
- Midline nasal masses: why they matter
- How nasal midline masses form
- Four outcomes of the same faulty process
- Differential diagnosis of nasal masses at birth or in infancy
- Evaluating and treating a nasal midline mass
- Midline scalp lumps in infants
- Clues that a scalp lump may reach the brain
- Steps in working up a suspicious scalp lump
- The hair collar sign
- Membranous aplasia cutis with a hair collar
- Bullous membranous aplasia cutis with a hair collar
- Hair collar with an overlying capillary birthmark
- Working up a positive hair collar sign
- Sinus pericranii
- A forehead sinus pericranii
- Two scalp lesions that mimic developmental anomalies
- Dermoid cysts
- Dermoid cysts at the eyebrow and the nose
- Dermoid cyst on the scalp
- Dermoid cyst at the lateral eyebrow
- Nasal and midline dermoid cysts carry extra risk
- Cephaloceles
- Spectrum of cranial neural tube defects
- What a cephalocele looks like
- Nasal glial heterotopia
- A nasal glial heterotopia at the nasal root
- Heterotopic brain tissue and rudimentary meningoceles
- Midline anterior neck inclusion cyst
- A midline anterior neck inclusion cyst (MANIC)
- Midline cervical cleft
- Sternal clefts and supraumbilical raphae
- A sternal cleft in a newborn
- Spinal dysraphism
- Open versus closed spinal dysraphism
- How a tethered cord causes damage
- Why finding it early matters
- Skin and spine share the same origin
- Which spine marks are and are not worrying
- A deep sacral dimple above the buttock crease
- Hypertrichosis: the 'faun tail'
- Hypertrichosis over the spine
- Lumbosacral lipomas
- Infantile hemangiomas and LUMBAR syndrome
- Multiple skin markers in LUMBAR syndrome
- Vascular malformations and Cobb syndrome
- Nevus simplex is usually reassuring
- Butterfly-shaped nevus simplex over the spine
- A second example of lumbosacral nevus simplex
- Skin lesions of the spinal axis linked to dysraphism
- Skin lesions of the spinal axis linked to dysraphism (continued)
- More markers, more risk
- Imaging for suspected spinal dysraphism
- Approach to cutaneous signs of spinal dysraphism
Aplasia Cutis Congenita
Skin missing or scarred at birth: one physical finding, many possible causes
- What aplasia cutis congenita is
- Two major patterns of aplasia cutis congenita
- Membranous aplasia cutis
- Stellate and angulated aplasia cutis congenita
- Where ACC sits, and what that means
- Red flags for a deeper skull defect
- A 9-group classification of aplasia cutis congenita
- Group 1: Scalp ACC without multiple anomalies
- Group 1: Scalp ACC without multiple anomalies
- Group 2: Scalp ACC associated with Adams–Oliver syndrome
- Group 3: Scalp ACC associated with epidermal and sebaceous nevi (and, occasionally, congenital melanocytic nevi)
- Group 4: ACC overlying embryologic malformations
- Group 4: ACC overlying embryologic malformations (continued)
- Group 5: ACC associated with fetus papyraceus, placental infarcts, or other ischemic events
- Group 6: ACC associated with epidermolysis bullosa (EB)
- Group 7: Localized ACC, presumably due to prenatal physical insult
- Group 8: ACC caused by specific teratogens, maternal conditions, or intrauterine infections
- Group 9: ACC associated with malformation syndromes
- Syndromes linked to aplasia cutis congenita
- Focal facial dermal dysplasia (FFDD) FFDD1 – Brauer FFDD2 – Brauer–Setleis FFDD3 – Setleis FFDD4 – preauricular
- Linear skin defects with multiple congenital anomalies (LSDMCA) 1–3 LSDMCA1 – microphthalmia with linear skin defects (MIDAS)
- Scalp ACC
- Adams–Oliver syndrome (see Table 64.3 , ACC group 2)
- Oculocerebrocutaneous (Delleman–Oorthuys) syndrome
- Oculoectodermal syndrome
- UBA2 -related phenotypic spectrum
- Johanson–Blizzard syndrome
- Scalp–ear–nipple syndrome (Finlay–Marks syndrome)
- Trisomy 13 (Patau syndrome)
- 4p- (Wolf–Hirschhorn) syndrome
- Facial aplasia cutis in Setleis syndrome
- Preauricular skin defects along a facial fusion line
- How aplasia cutis congenita looks under the microscope
- The clinical range of aplasia cutis congenita
- Typical locations for different forms of aplasia cutis congenita
- Additional patterns of aplasia cutis congenita
- Irregular aplasia cutis congenita of the leg and scalp
- Working up a newborn with aplasia cutis congenita
- How aplasia cutis congenita is treated
Other Developmental Anomalies
Isolated findings that are usually harmless, but sometimes point to a wider syndrome
- Congenital lip pits
- The three types of congenital lip pits
- Lip pits as part of a syndrome
- Accessory tragi
- Accessory tragi and a cervical cartilaginous rest
- A typical preauricular accessory tragus
- Accessory tragi and wider syndromes
- Congenital cartilaginous rests of the neck
- Branchial cleft sinuses and fistulae
- Branchial anomalies as part of a syndrome
- Supernumerary nipples
- The embryonic milk lines
- Supernumerary nipples on the chest
- A supernumerary nipple with a surrounding areola
- Bilateral supernumerary nipples
- Do supernumerary nipples signal kidney problems?
- Absent or underdeveloped nipples
- Skin dimples
- When a dimple is a warning sign
- Fingerprint pattern defects (dermatoglyphics)
- Dermatoglyphic defects as a syndrome clue
- Rudimentary polydactyly
- Bilateral rudimentary supernumerary digits
- Amniotic band sequence
- Two theories for amniotic band sequence
- What amniotic band sequence looks like
- Skin clues in cleft lip and palate
- Skin diseases associated with cleft lip and/or palate
- Skin diseases associated with cleft lip and/or palate (continued)
- Skin clues in congenital digital anomalies
- Skin diseases associated with congenital digital anomalies
- Skin diseases associated with congenital digital anomalies (continued)
- Skin diseases associated with congenital digital anomalies (continued)
- Skin diseases associated with congenital digital anomalies (continued)
- Skin diseases associated with congenital digital anomalies (continued)
- Key takeaways
- References
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- References
- Dermatology, 5th Edition (2-Volume Set)