2025 – PAGE 154 – DERMATOLOGY

(NAME ALERT) KLIPPEL-FEIL SYNDROME

Klippel-Feil Syndrome results in a torticollis-like appearance and results from fused cervical vertebrae. Patients will likely have a short, webbed neck, limited range of motion at the neck, and possibly other anomalies. Etiology is unknown. The “Name Alert” is because this is a completely different disorder from Klippel-Trenaunay Syndrome (limb overgrowth due to AV fistulae).

IMAGE: www.pbrlinks.com/KLIPPELFEIL1  (View images and move on!)

CONGENITAL MELANOCYTIC NEVUS

Congenital melanocytic nevi are commonly referred to as moles. They may present at birth or within the first few months of life. They are generally benign but carry an increased risk of MELANOMA if there are multiple moles (more than three) or if they are > 20 cm. They are associated with spinal dysraphisms and Dandy Walker Syndrome (fossa abnormality).

MCCUNE-ALBRIGHT SYNDROME (AKA POLYOSTOTIC FIBROUS DYSPLASIA)

McCune-Albright syndrome (AKA Polyostotic Fibrous Dysplasia) findings include IRREGULAR café-au-lait MACULES (either > 3 cm or multiple), PRECOCIOUS PUBERTY, BONE PROBLEMS (fractures, cranial deformities), and possibly other endocrine issues (hyperthyroidism). It can cause fractures of long bones and bowing of arms.

IMAGE: www.pbrlinks.com/MCCUNE1

MNEMONIC: Call it MACULE Albright Syndrome from now on.

TUBEROUS SCLEROSIS

Tuberous sclerosis is AUTOSOMAL DOMINANT. Look for at least 2 of the following features:

• ASH LEAF SPOTS: These are hypOpigmented lesions, which can be seen with a Woods Lamp. You need at least 3 on the body to help make the diagnosis.
  • IMAGE: www.pbrlinks.com/TUBERSCLERO1
  • IMAGE: www.pbrlinks.com/TUBERSCLERO2
• SHAGREEN PATCH (hypERpigmented plaque that can be rough/thick and papular)
  • IMAGE: www.pbrlinks.com/TUBERSCLERO3
  • IMAGE: www.pbrlinks.com/TUBERSCLERO4
• ANGIOFIBROMAS (AKA ADENOMA SEBACEUM or SEBACEOUS HYPERPLASIA)
  • PEARL: Often misdiagnosed as acne. LOOK FOR SPARING OF THE FOREHEAD.
  • IMAGE: www.pbrlinks.com/TUBERSCLERO5
• PERIVENTRICULAR OR CORTICAL TUBERS: Usually associated with INFANTILE SPASMS or seizures
• CARDIAC RHABDOMYOMAS: Look for a kid with arrhythmias!
• RENAL ANGIOMYOLIPOMA

MANAGEMENT OF TUBEROUS SCLEROSIS: Most of the management has to do with seizures/infantile spasms and cardiac arrhythmias.

• • MNEMONIC: Imagine a TUBULAR bazooka shooting out WHITE LEAVES. The leaves have DANCING (seizing) tics on them!
  • MNEMONIC: ASH is typically GRAY/WHITE/HYPOPIGMENTED, whereas a “PATCH of GREEN” is typically DARKER/HYPERPIGMENTED.
  • MNEMONIC: ASHES come from burned WOOD. A Woods lamp is needed to see them.