LEOPARD syndrome is a rare inherited disorder characterized by abnormalities of the skin, the structure and function of the heart, the inner ear, the head and facial area, and/or the genitals. LEOPARD syndrome is nearly always due to mutations in the PTPN11 gene (protein-tyrosine phosphatase, no receptor type 11). It is inherited in an autosomal dominant manner, which means that if one parent is affected there is a 50% chance that each child will be affected. About 70% of cases are inherited. The remainder is sporadic cases occurring from new mutations. The signs and symptoms experienced by people with LEOPARD syndrome vary greatly.

The sign and symptoms of LEOPARD syndrome involve lentigines, electrocardiographic conduction abnormalities, optical hypertelorism, pulmonary stenosis, abnormal genitalia, retarded growth and deafness. Some patients may have a fractional form of the syndrome and suffer mild symptoms while others with the full syndrome are more severely affected. Lentigines may be present at birth or develop during childhood. They become more numerous and darker with age. Other skin lesions, such as nevocellular nevi and malignant melanomas, reported sporadically in the LEOPARD syndrome, may undergo depigmentation.

Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy and pulmonary valve stenosis. Postnatal increase retardation resulting in short size arises in fewer than 50% of affected persons. Sensorineural hearing deficits present in approximately 20% are poorly characterized. Mental retardation, typically mild, is observed in approximately 30% of persons with LS. Antiarrhythmic treatment may be required in cases with life-threatening ventricular ectopy. Treatment of hearing loss includes hearing aids, enrollment in an educational program for the hearing impaired, and consideration of cochlear implantation.

Surgical treatment may be required in cases with harsh outflow tract obstruction or in patients with cryptorchidism, hypospadias, or severe skeletal deformity. Cryosurgery and laser treatment may be beneficial for isolated lentigines. For some patients, treatment with tretinoin cream and hydroquinone cream may be helpful. Therapeutic regimens include beta-adrenergic receptor or calcium channel blocking agents to reduce outflow tract obstruction and adrenergic responsiveness in patients with structural cardiac anomalies. Genetic counseling should be offered to all patients with LEOPARD syndrome.

3 thoughts on “Pictures Of People With Lupus Disease

  1. zitdr_02

    The hair loss in lupus can be either “non scarring” or “scarring”. In the scarring type, there is usually a red, scaly atrophic patch of skin in the area of the baldness, and I don’t see that in the pix. The nonscarring type is usually more generalized than yours is. In fact, your clinical appearance is more of a genetic male pattern baldness. Your dermatologist can obviously make a better assessment than I can from a couple of pix, though.

  2. Anonymous

    What are these mysterious sores in my mouth?
    Im a 19 year old female with Lupus. About a month ago I started getting blister like sores in my mouth, I went to the doctor and she said that it looked like herpes simplex 1… I don’t understand how I could have caught it, if that’s what it is. Im not sexually active and I don’t go around kissing people. I also looked at pictures of it on the internet and that does not look like what is in my mouth and throat. I have always had canker sores, but these don’t even look like canker sores. My entire mouth,inner cheeks, and throat are covered in white and red patches. The patches are even spreading to my gums. It does not hurt too bad, but it is uncomfortable and difficult to eat. My doctor put me on Acyclovir 400mg, 5 times a day. It took the patches away the first time, but the patches returned a week later. And I want to know what it is. I have lichen sclerosis in my anal area and I’m wondering if this may be something similar. I have not started any new medication, so that is eliminated as a potential cause. I have also had thrush a couple times before and this does not look like thrush either. I don’t mean to sound like a hypochondriac, but it kind of worries me. It looks really bad. I have seen my primary care physician about this, who is also a infectious disease specialist. I also called my Rheumatologist and I am waiting for her to return my call. I’m thinking maybe I should call my Dermatologist too???

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