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Syndromes

Discussion in 'Spot Diagnosis' started by bb100, Apr 23, 2013.

  1. bb100

    bb100 Bronze Member

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    This is the second most common facial birth defect after cleft lip and palate disorders.
    3.jpg
     

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  2. Stefan Misaca

    Stefan Misaca Famous Member

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    When I saw that closed eye and how the mouth is I wanted to say paralysis of facial nerve.
    But my ddx is : Hemifacial microsomia (also know as Craniofacial microsomia/Lateral facial dysplasia) : a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible.
    It can be on one side of face or entire face.
     

  3. neo_star

    neo_star Moderator

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    findings

    1) left sided facial nerve palsy ( LMN type )
    2) loss of eyebrow on left side
    3) depressed areas on the forehead bilaterally ( and it doesn't look like a depressed scar )......so i will call it 'atrophy'.

    2 conditions can fit this clinical picture i.e Parry Romberg syndrome and Hemifacial microsomia. But since u mentioned 'born with', Parry-Romberg will come lower down on the differentials (since it appears around 5 -15 years of age).


    differentials



    1) Hemifacial Microsomia

    This multiple anomaly syndrome affects usually one side of the face. The most common features on that side are: hypoplasia of the mandible and a wide mouth (macrostomia), which extends laterally, a malformed ear, an epibulbar dermoid on the lateral edge of the cornea of the eye, soft tissue deficiency, and a facial nerve palsy.
    can be remembered by the: O.M.E.N.S. Classification (O=orbital distortion; M=mandibular hypoplasia; E=ear anomaly;N=nerve involvement, and S=soft tissue deficiency) in 1991, suggested by Mulliken and his collaborators.

    Causes ( multi-factorial)

    Environmental Factors
    Hemifacial microsomia has been attributed to maternal insulin-dependent diabetes mellitus, chorionic villus sampling and vasoactive agents taken during the first trimester of pregnancy.
    Hemifacial microsomia has been observed among infants exposed to the prenatal diagnosis procedure chorionic villus sampling, which has been postulated
    to be caused by a secondary vascular event, such as embolization.
    An increased rate of exposure to vasoactive compounds, such as pseudoephedrine, ibuprofen, and cocaine, was revealed in interviews of the 230 mothers
    of children with hemifacial microsomia in comparison to 678 controls. There was a higher association when these exposures occurred in mothers who smoked cigarettes or took vasoactive medications. This analysis also showed a significant association of infants with hemifacial micro somia and twinning, as well as maternal diabetes mellitus.

    when Hemifacial microsomia is accompanied by vertebral and or internal organ involvement, it is called Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome).

    ref - Common malformations by Lewis Holmes

    I like to think of hemifacial microsomia as, 'unilateral Treacher Collin's syndrome'

    [​IMG]


    Treacher Collins syndrome (TCS), also known as Treacher Collins”“Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.Treacher Collins syndrome is found in about 1 in 50,000births. The typical physical features include downward slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.


    2) Parry Romberg syndrome ( progressive hemifacial atrophy )

    The characteristic symptom of Parry-Romberg syndrome is thinning or shrinkage (atrophy) of various tissues of the face including fat, skin, connective tissues, muscle, and, in some cases, bone. The degree of atrophy can vary widely, ranging from mild, barely perceptible changes to significant asymmetry in which one side of the face appears "sunken in". The progression of atrophic changes can vary as well. Facial atrophy may progress slowly over many years, or more frequently progresses slowly for several years before stopping. If the atrophy stops progressing, it may occasionally reactivate later in life but this is rare. In other cases, the atrophy may progress indefinitely. In some cases, when Parry-Romberg syndrome starts at an early age, the progression seems to accelerate more quickly than when it starts later in life.

    The initial facial changes associated with Parry-Romberg syndrome usually occur near the middle portion of the face such as the cheek area above the upper jaw bone (maxilla) or between the nose and the upper corner of the lip. As the disease process continues, the upper face (e.g., the areas around the eye, the eyebrow, and the ear) as well as the angle of the mouth and the lower jaw bone (mandible) usually are affected. In some cases, one half of the chin may also be involved. Affected areas undergo shrinkage (atrophy) of tissues beneath the skin (subcutaneous tissue), the layer of fat under the skin (subcutaneous fat), and sometimes underlying cartilage, muscle, and bone. Areas affected by such changes may develop an abnormally sunken appearance. Many individuals may exhibit an unusual bony depression or hollow in the forehead or upper domed portion of the skull, the bony cavity that accommodates the eye (orbit), and/or the lower jawbone (mandible).

    In some cases, a "line" may form in the area where the atrophic changes on one side of the face meet the normal, unaffected skin on the other side of the face. In some cases, this "line" may be very distinct and runs either vertically or diagonally down the forehead. The abnormal skin is thickened and hardened (sclerosis). This condition may be referred to as linear scleroderma "en coup de sabre" (LSCS) (this comes from the French for 'sabre cut'). LSCS can occur by itself as an isolated finding. According to the medical literature, LSCS is either a separate disorder that overlaps to a large degree with Parry-Romberg syndrome or essentially the same disorder (i.e., different expressions of one disease process or spectrum of disease). The exact relationship of LCSC and Parry-Romberg syndrome is not fully understood but its clear that the two commonly co-exist.

    ref - National Organization for Rare Disorders

    [​IMG]


    ref - NORD guide to rare disorders

    [​IMG]


    a 17 year old girl with Parry”“Romberg syndrome. The subcutaneous tissue and underlying facial muscles on the right side of the face are severely atrophic, while the left side is unaffected

    ref - Parry
     

    Last edited: Apr 24, 2013
  4. neo_star

    neo_star Moderator

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    this case is occupying my 'mind-space' and i think i am missing something

    in LMN type of facial nerve palsy...there should be an inability to shut the eye ( as opposed to this case, wherein the eye on the affected side seems to b tightly shut ). This can only be possible if there is a concomitant, occulomotor nerve involvement and that makes this case very special.

    In hemifacial microsomia, u classically get only facial nerve involvement ( like the ex. i posted ) and although it is hard to make out from a front-facing image ( in the challenge posted )....i see no obvious ear deformity, which is very classical 4 'Hemifacial Microsomia'. Only the hx of onset...whether from birth or started much later can clarify the picture.

    Parry-Romberg is not congenital and is widely thought to be some form of acquired autoimmune condition, which starts after 5 years of age. So if this is not congenital, my money is on 'Parry-Romberg' syndrome, which can have multiple cranial nerve involvement.
     

  5. Stefan Misaca

    Stefan Misaca Famous Member

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    Neo_star, I know that Parry Romberg syndrome has a higher prevalence in females and typically appears between 5 – 15 years of age
    The diagnosis for Parry Romberg syndrome is clinical and based on characteristic cutaneous and soft tissue.
    In hemifacial microsomia the most common affected parts are : ear , mouth, mandibula but also the eye, cheek and neck may also be affected. I think thats why this syndrom is called in so many names : "first and second branchial arch syndrome, otomandibular dysostosis, oculo-auriculo-vertebral sequence, facio-auriculo vertebral syndrome, Goldenhar syndrome and lateral facial dysplasia" (that underline words were copied from wikipedia :D)

    hehe :D no offence, correct me if I'm wrong .. i'm still learning things :D
     

    Last edited: Apr 24, 2013
  6. bb100

    bb100 Bronze Member

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    Correct diagnosis :
    Hemifacial Microsomia
     

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