Pediatric Skin Disease

What are Cafe Au Lait Spots?

Cafe Au Lait Spots are hyperpigmented patches of skin that appear at birth/early on in life

1) Greater than 6 Cafe Au Lait Spots are characteristic of neurofibromatosis type 1 due to a mutation in the NF1 gene on chromosome 17
→ will see neurofibromas or benign peripheral nerve sheath tumors
→ may see Lisch nodules or hamartomas of the iris

What are Ash Leaf Macules?

Ash Leaf Macules are hypopigmented macules that appear early on or at birth

1) Larger than 3 ash leaf macules is characteristic of tuberous sclerosis complex due to a mutation in TSC1 and TSC2 in chromosomes 9 and 16
→ cause hamartomas in the brain and other organs 

What are Port Wine Birthmarks?

Port Wine Birthmarks are capillary vascular malformations that are present at birth and do not disappear

1) Port Wine Stains on the forehead are associated with Sturge Weber Syndrome
→ Will have leptomeningeal vascular malformations (abnormal network of blood vessels in the leptomeninges) and glaucoma on the same side as the port wine stain

What are Infantile Hemangiomas 

Infantile Hemangiomas are a benign vascular proliferative lesion

1) These lesions will begin as a precursor lesion at birth that will rapidly grow in the first weeks of life and then shrinking/involution as patients get older
→ they resolve with time and do not require treatment but may be treated with propanolol if problematic 

2) Hemangiomas that appear on the face is associated with PHACES syndrome while lumbosacral hemangiomas are associated with lumbar syndrome

What is Phaces Syndrome?

PHACES Syndrome is the presence of segmental facial hemangiomas and is associated with brain, eye and arterial anomalies
1) Must take an MRI of the brain along with an eye exam and cardiac ECHO

What is Lumbar Syndrome?

Lumbar Syndrome is the presence of segmental hemangiomas in the lumbrosacral region
→ patients will have urogenital anomalies and bone issues and should always be given and ultrasound and MRI of the spine and abdomen

What is Congenital Melanocytic Nevi?

Congenital Melanocytic Nevi are benign hamartomas composed of melanocytes. They are moles that patients are born with that are often hairy
1) Associated with an increased risk of developing melanoma
→ always refer to a neurologist and ophthalmologist due to involvement of the eye and brain

What is Nevus Sebaceous?

Nevus Sebaceous is a congenital hamartoma that is a single asymptomatic lesion that is present at birth and has a smooth or cobblestone like appearance

What are the skin manifestations of measles?

1) Presents with a fever along with the 3 C’s of cough, coryza (inflammation of the nose), and conjunctivitis

2) The most common presentation is Koplik spots or small spots that are commonly found in the buccal mucosa (in the mouth)
→ leads to a measles rash which spreads across the entire body (maculopapular rash)

What are the manifestations of Scarlet Fever?

Scarlet Fever is caused by a exotoxin produced by streptococcus pyogenes that appears 12-24 hours following fever

1) presents as small red papules with sand paper texture
→ strawberry tongue

2) Scarlet Fever can develop into rheumatic fever and acute glomerulonephritis later on

What is Erythema Infectiosum?

Erythema Infectiosum is caused by Parvovirus B19 that causes a slapped cheek rash

1) Presents with a characteristic 3 stage rash that is self limited
→ fiery red patches on the cheeks
→ lacy red patches on the trunk and extremities
→ intermittent waxing and waning of the rash

What is Staphylococcal Scalded Skin Syndrome?

Staphylococcus Aureus infections can lead to a toxin that destroys the attachment between cells in the stratum granulosum

1) Will lead to sloughing of the superficial epidermis and a positive Nikolsky sign
→ this rash will present all around the body and will create fissures around the mouth

What is Eczema Herpeticum?

Eczema Herpeticum is caused by herpes simplex virus and occurs in patients with underlying atopic dermatitis
→ Causes the formation of punched our erosions and monomorphic vesicles 

What is Molluscum Contagiosum?

Molluscum Contagiosum is the presence of pearly white papules caused by poxvirus. May present with a BOTE Sign and Gianotti-crosti like reaction
1) BOTE Sign
→ also known as beginning of the end sign, it is an inflammatory reaction that appears as molluscum contagiosum resolves
→ looks like increased redness and pus discharge from the lesions

2) Gianotti Crosti
→ occurs following viral illness or vaccination where there is monomorphic scaly papules
→ can occur prior to the resolution of molluscum

What is Hand Foot and Mouth Disease?

Hand Foot and Mouth Disease is caused by coxsackievirus A16 or enterovirus

1) causes grey-white oval vesicles on the palms and soles
→ may cause onychomadesis which is proximal separation of the nail from the nail bed

What is Pediculosis Capitis?

Pediculosis Capitis or head lice is infestation of hair via pediculosis capitis
→ causes scalp pruritis and excoriations of the head
→ treated with permethrin 

What is Scabies?

Scabies is infestation of the skin via the sacroptes scabiei mite
1) Extremely itchy rash that is spread via human contact