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Think or blink!!!

I was rudely shaken by the rare disease about which I did not have the faintest idea! :(

Here are more details! It is true "To be born as a human without defects itself a blessing!"

Harlequin ichthyosis | About the Disease | GARD

Find symptoms and other information about Harlequin ichthyosis.
rarediseases.info.nih.gov rarediseases.info.nih.gov

Harlequin ichthyosis


Other Names:

Ichthyosis congenita, Harlequin fetus type; Harlequin fetus

Categories:

Congenital and Genetic Diseases; Skin Diseases


Summary
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Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.[1] The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating.[2] Mutations in the ABCA12 gene cause harlequin ichthyosis.[1] This condition is inherited in an autosomal recessive pattern.[1][2]
Last updated: 2/6/2015​
Symptoms
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​
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Showing 23 of 23 | View Less
Medical TermsOther NamesLearn More:
HPO ID
80%-99% of people have these symptoms
Congenital ichthyosiform erythroderma0007431
Depressed nasal ridgeFlat nose
[ more ]		0000457
EctropionEyelid turned out0000656
Hearing abnormalityAbnormal hearing0000364
Hyperkeratosis0000962
Recurrent respiratory infectionsFrequent respiratory infections
[ more ]		0002205
30%-79% of people have these symptoms
EclabionOutward turned lips0012472
Erythroderma0001019
Limitation of joint mobilityDecreased joint mobility
[ more ]		0001376
5%-29% of people have these symptoms
CataractClouding of the lens of the eye
[ more ]		0000518
Dehydration0001944
Foot polydactylyDuplication of bones of the toes0001829
Hand polydactylyExtra finger0001161
Malignant hyperthermia0002047
Respiratory insufficiencyRespiratory impairment0002093
Self-injurious behaviorSelf-injurious behaviour0100716
Sudden cardiac deathPremature sudden cardiac death0001645
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance0000007
Everted lower lip vermilionDrooping lower lip
[ more ]		0000232
Premature birthPremature delivery of affected infants
[ more ]		0001622
ProptosisBulging eye
[ more ]		0000520
RigidityMuscle rigidity0002063
Short fingerStubby finger
[ more ]		0009381
Showing 23 of 23 |
 
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The woman had used a topical benzocaine, an over-the-counter pain reliever, for a toothache. The next morning, she woke up feeling unwell and noticed her strange colouring.
 
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