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Flashcards in Skin Discoloration Deck (26):

A baby with blue hands and feet

What is the most likely diagnosis?

Acrocyanosis- a physiologic condition caused by increased tone of peripheral arterioles, usually in response to chilling


What is the most likely diagnosis?

Cutis Marmorata

a normal response to chilling- it can be a sign of sepsis in an unwell appearing child who has never exhibited CM before


What is the most likely diagnosis?

is this condition present at birth?

what is present in the pustules?

Transient Neonatal Pustular Melanosis

this is present at birth- but the vesicopustules or ruptured pustules disappear within 24-48 hours leaving pigmented macules with a scale.

The pustules are filled with neutrophils


pinpoint clear vesicles that suddently erupt over large areas- frequently in newborns

What is the most likely diagnosis?

How do we differentiate this from TNPM?

Miliaria crystallina occurs when the baby is overly warm mostly on the trunk

It can occur in the first few days to monts of life dt immature sweat ducts 

this rarely presents on day 1 (TNPM is present at birth)


a flat, grey to bluish-black macule most often found on the lumbosacral area or buttocks

What is the most likely diagnosis?

is there an increased risk of malignancy?

Mongolian Spots are most common in black and Asian infants

there is NO risk of malignancy


A pale pink macules or poorly circumscribed patch that is completely flat- it becomes more apparent during crying, holding her breath, or physical exertion that blanches when pressed

What is the most likely diagnosis?

Salmon Patch (nevus simplex)

this is the most common vascular lesion of infancy and is present at birth.

50% on the posterior persist.  

Some have a matching patch on the forehead


Macular, sharply circumscibed, pink to purple, and usually unilateral.  This lesion does not blanch.

The lesion is present at birth and remains throughout life

What is the most likely diagnosis?

what is the etiology

what are complications?

Port wine Stain (nevus flammeus)

is often present in the head and neck region and can cause hypertrophy of underlying structure dt mature dilated dermal capillaries

Consider sturge-weber if it is located on the face or Klippel-Trenaunay-Wever if located on the extremities


What is Sturge-Weber Syndrome

What are other s/s of this condition?

Port-wine stain over the ophthalmic branch of the trigeminal nerve

Intracranial calcifications, seizure disorder, hemiparesis (contralateral), glaucoma, mental retardation, developmental delay


What is Klippel-Trenaunay-Weber Syndrome

A port-wine stain on an extremity associated with significant local overgrowth of soft tisue and bone


rapidly growing and raised (protrude from the surface of the skin) lesion.  The lesion does not blanch and is usually not noticed within the first few days of life

Superficial HI i.e. "strawberry" capillary hemangiomas

usually found in the head and neck regions

Proliferative phase 9-12 months

Most of these (80%) resolve on their own by 6-10 yo.

remember: port wine= flat supeficial HI= raised


Kassaback-Merritt Syndrome

Kasabach-Merritt Syndrome is a rapidly enlarging hemangioma causing:

activation of the clotting system



hemolytic anemai

the babies look VERY sick bc they are in shock.

Tx: excision, interferon, steroids, local radiation, or laser photocoagulation


What are some complicaitons of Superficial HI based on location?


Near eye

Tip of nose


Beard= Airway compromise

Near Eye= Strabismus (lazy eye), Amblyopia, Astigmatism

Tip of Nose= altered growth of the septum

Lumbosacral= Get and MRI, tethered cord, spinal dysraphism, imperforate anus, renal anomalies, sacral anomalies


Common in adolescence and young adulthood

numerous small, circular, white, scaling papules/patches on teh upper trunk

lesions are hypopigmented

What is the most likely diagnosis?

How do we diagnose this?

Tinea Versicolor Malassezia furfur overgrowth

the hypopigmented areas of infection will have a faint yellow-green fluorescence under a Wood's lamp

KOH of scraped scales has"spaghetti and meatballs" appearance



What is shown in the bottom picture?

Herald Patch

Oval, slightly raised plaque or patch, salmon-red, fine collarette scale at the periphery


Fine scaling papules and plaques with marginal collarette that are dull pink or tawny.  They are scattered with characteristic distribution following  the lines of cleavage in a "Christmas tree" pattern

These lesions are usually confined to the trunk

What is the most likely diagnosis?

Seasonal DIstribution?

Pityriasis Rosea

a/w viral infections but true cause is unknown

Spring and Winter

Bening and self limited usually remits spontaneously in 6-12 weeks and is not contagious


Totally white maculs/patches 

What is the most likely diagnosis?

what is the etiology?



may appear at the site of trauma or following illness/emotional stress

Immune mediated destruction of melanocytes

commonly a/w autoimmune disorders

Melanocytes may persist in the hair follicle epithelium and serve to repopulate involved skin (re-pigmentation)


present at birth

White skin, eyelashes, eyebrows, and hair.  

Irises appear pink

What is the most likely diagnosis?

Inheritance pattern


Oculocutaneous Albinism


absence of tyrosinase, decreased tyrosinase, or a mutation in tyrosinase related protein lead to a defect in melanin synthesis resulting in reduced or absent pigmentation


there is no treatment except to stay out of the sun


present at birth

white forelock

What is the most likely diagnosis?

Inheritance Pattern?





 normally pigmented small macules within patches of hypopigmentation

AD- the white forelock is caused by mutations in the KIT protoncogene

defective migration of melanoblasts from the neural crest to the ventral midline and defect in the differentiation of melanoblasts to melanocytes


Waardenburg Syndrome

Inheritance pattern

wide set eyes

broad nasal root

partial or total heterochromia


congenital sensorineural deafness (accounts for 1% of all deafness in children)


Hypopigmented macules (small raised lesions  on the skin)

with larger "ash-leaf spots" that are not obvious at birth

may have shagreen patches (look like raised leather) or Adenoma sebaceum (angiofibromas on the face)

The child may have major behavior problems, mental retardation, and seizures

Tuberus Sclerosis


other findings include ungual or periungual fibromas, gingival fibromas, dental enamel pitting, cortical tubers, subependymal nodules, subependymal giant cell astrocytoma, cardiac rhabdomyomas, and renal cysts


Any child with unexplained seizures should have what on the list of differentials?



Tuberous Sclerosis

Make sure you get a good Hx.  Do seizures run in the family?



Neurofibromatosis is an AD trait manifested by changes in the skin, nervous system, bones, and endocrine glands.

there are 2 major forms, NF1 and NF2


What is a diagnostic sign that is present only in NF1 and not NF2?

pigmented hamartomas of the iris (Lisch nodules)


What is a diagnostic sign that is only present in NF2?

Bilateral acoustic neuromas

(unilateral acoustic neuromas are a variable feature of NF1)


2+ of the following:

  • More than 6 CAL lesions
  • Multiple freckles in the axillary and inguinal regions
  • 2+ neurofibromas
  • Sphenoid wing dysplasia
  • Optic nerve gliomas
  • 2+ Lisch nodules

classic von Recklinghausen (NF1)

one other characteristeristic that would have given this one away is a first degree relative who has also been diagnosed with this disease- it is AD afterall. 

The CAL spots appear during the first 3 years while the neurofibromas appear late in adolescence.

Axillary/inguinal freckles are pathognomonic for NF1


What is this?

Plexiform neuroma on the sole of the foot.  Plexiform neuromas are drooping, soft, doughy and may be massive involing the entire extremity, head, or portion of the trunk.