Neurofibromatosis 1
Cafe-au-Lait Spots
Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene. (1/48)
Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and cafe-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no cafe-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation has also been observed in an unrelated patient with classical NF1. Both NF1 mutations cause a reduction in neurofibromin of approximately 50%, with no truncated protein present in the cells. This demonstrates that typical NF1 null mutations can result in a phenotype that is distinct from classical NF1, showing only a small spectrum of the NF1 symptoms, such as multiple spinal tumors, but not completely fitting the current clinical criteria for SNF. We speculate that this phenotype is caused by an unknown modifying gene that compensates for some, but not all, of the effects caused by neurofibromin deficiency. (+info)A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple cafe-au-lait spots. (2/48)
Individuals with a germ-line mutation in one of the DNA mismatch repair (MMR) genes are at significant risk for colorectal cancer and other tumors. Three families have previously been reported with individuals homozygous for mutations in the MMR gene MLH1 that are predicted to compromise MMR. These individuals develop hematological malignancies and/or neurofibromatosis type 1 at an early age. Here, in an individual, we demonstrate that a homozygous novel mutation in the MMR gene MSH2 is associated with leukemia and multiple cafe-au-lait spots, a feature of neurofibromatosis type 1. Because the hematological malignancies observed in the individuals homozygous for the loss of MMR are reflective of the lymphomas seen in mice lacking MMR, the mice may provide a useful model for human neoplasia. (+info)A case of non-Hodgkin's lymphoma in a patient with neurofibromatosis type 1. (3/48)
Neurofibromatosis type 1 is characterized by cutaneous neurofibromas and pigmented lesions of the skin called cafe au lait spots. Although neurofibromatosis type 1 represents a major risk factor for the development of malignancy, especially of nervous system tumors, malignant lymphoma rarely occurs in a patients with neurofibromatosis type 1. Recently, a 77-year-old woman with neurofibromatosis type 1 was diagnosed as non-Hodgkin's Lymphoma (diffuse large B cell). She had multiple cafe au lait spots, neurofibromas and right axillary lymph node enlargement. An abdominal CT scan demonstrated a left pelvic mass and para-aortic lymphadenopathy. Because non-Hodgkin's Lymphoma in a neurofibromatosis patient has never been reported in Korea, herein, we describe this case and include a review of the literature. (+info)Common hyperpigmentation disorders in adults: Part I. Diagnostic approach, cafe au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactions. (4/48)
The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Cafe au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In these instances, the hyperpigmentation may be ameliorated by discontinuing offending medications, performing serial phlebotomy in patients with hemochromatosis, instituting cause-specific treatments in patients with hyperthyroidism, and replacing deficient glucocorticoids and mineralocorticoids in patients with Addison's disease. Cosmetic treatment with bleaching agents or lasers can be used to decrease pigmentation of ephelides (freckles) and lentigines. (+info)Cafe au lait has hue of its own. (5/48)
Segmental pigmentation disorder is a pigmentation disorder (hypo- or hyperpigmentation) first described some 20 years ago. It appears early in life, is segmental, and usually has a sharp border in the midline. It can be confused clinically and histologically with several pigmentary disorders, especially with giant or segmental cafe-au-lait macules. The purpose of this article is to promote, revive, and refresh this somewhat neglected entity, and to further subdivide it into two types: segmental pigmentation disorder simplex and segmental cafe-au-lait. We illustrate our contention with case reports. (+info)The use of lasers and intense pulsed light sources for the treatment of pigmentary lesions. (6/48)
Lasers and intense pulsed light sources are frequently used for the treatment of pigmented lesions, and the appropriate selection of devices for different lesions is vital to achieving satisfactory clinical outcomes. In dark-skinned patients, the risk of post-inflammatory hyperpigmentation is of particular importance. In general, long-pulse laser and intense pulsed light sources can be effective with a low risk of post-inflammatory hyperpigmentation (PIH) when used for the treatment of lentigines. However, for dermal pigmentation and tattoo, Q-switched lasers are effective, with a lower risk of complications. In the removal of melanocytic nevi, a combined approach with a long-pulse pigmented laser and a Q-switched laser is particularly applicable. (+info)Autoimmune haemolysis as an unusual cause of anaemia in von Recklinghausen's disease. (7/48)
Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nodules, short stature, optic glioma and central nervous system tumours. In adults, anaemia in the course of NF-1 is usually due to gastrointestinal tumour bleeding. Association of NF-1 and autoimmune haemolytic anaemia is unusual. Here, we report a 48-year-old woman with NF-1 presenting as autoimmune haemolytic anaemia. We also reviewed the literature about the association of NF-1 and autoimmune diseases. (+info)The use of lasers in the pediatric population. (8/48)
Over the past 2 decades, there have been numerous advances in laser therapy of birth-marks in the pediatric population. Concerns regarding efficacy, overall benefit, and side-effects linger. We present our opinion, based upon decades of clinical experience, on the role of lasers to treat port wine stains, superficial hemangiomas, and cafe au lait macules in children. (+info)The main features of NF1 are:
* Neurofibromas: These are the hallmark feature of NF1. They are usually soft to the touch and have a characteristic "plexiform" or web-like appearance under a microscope.
* Skin changes: People with NF1 may have freckles, skin spots, or patches that are darker or lighter than the surrounding skin.
* Bone abnormalities: About 50% of people with NF1 will have bony deformities, such as bowed legs, curvature of the spine, or abnormal bone growth.
* Optic gliomas: These are benign tumors that grow on the nerves in the eye and can cause vision problems.
* Learning disabilities: Children with NF1 may have learning difficulties, particularly with math and memory.
* Other health problems: People with NF1 may also develop other health issues, such as high blood pressure, heart problems, or thyroid disorders.
There is no cure for NF1, but various treatments can help manage the symptoms and prevent complications. These may include surgery to remove tumors, medication to control high blood pressure or other health problems, and specialized education programs to help with learning difficulties. With appropriate care and support, people with NF1 can lead fulfilling lives.
Cafe-au-Lait Spots are usually diagnosed based on their appearance and do not require any specific tests. However, if the spots are suspected to be a sign of an underlying medical condition, further evaluations such as blood tests or imaging studies may be ordered to rule out other conditions.
There is no specific treatment for Cafe-au-Lait Spots, as they are harmless and do not pose any health risks. However, if the spots are causing cosmetic concerns or are associated with other symptoms, treatment options such as topical medications, laser therapy, or surgery may be considered.
It is important to note that Cafe-au-Lait Spots can sometimes be a sign of an underlying genetic condition, such as neurofibromatosis type 1 (NF1), so if you or your child has multiple spots, it is recommended to consult with a dermatologist or other healthcare professional for proper evaluation and advice.
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Neurofibromatosis12
- People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters. (medlineplus.gov)
- This is a picture of a giant cafe-au-lait spot on a person with neurofibromatosis. (medlineplus.gov)
- 5. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. (nih.gov)
- 6. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. (nih.gov)
- 7. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? (nih.gov)
- 8. Studies on café au lait spots in neurofibromatosis and pigmented macules of nevus spilus. (nih.gov)
- 11. Cutaneous nerves in cafe au lait spots with white halos in infants with neurofibromatosis. (nih.gov)
- 13. An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots and Freckling. (nih.gov)
- 19. The myth of six café-au-lait spots in the peripheral form of neurofibromatosis. (nih.gov)
- On physical exam, look for signs of trauma, microcephaly, skin findings suggestive of genetic syndromes such as ash leaf spots (tuberous sclerosis) or cafe au lait spots (neurofibromatosis), or hepatosplenomegaly which would be suggestive of metabolic derangements such as … In particular, facial and leg involvements were most distressing to the patient. (ericlowitt.com)
- BACKGROUND: Neurofibromatosis type I (NF1) is a rare genetic disorder, associated with some physical symptoms including spots and tiny bumps on the skin, and internal organ involvement. (bvsalud.org)
- One uncle said to be affected with at least the cafe-au-lait spots of neurofibromatosis is evidently being considered for heart surgery in the Army. (nih.gov)
Neurofibromas3
- NF1+/ex42del miniswine phenocopy the wide range of manifestations seen in NF1 patients, including café au lait spots, neurofibromas, axillary freckling, and neurological defects in learning and memory. (nih.gov)
- Clinically, NF1 is characterized by café-au-lait (CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias. (ox.ac.uk)
- METHODS: The proband, a 10-year-old boy, showed large CAL spots and freckling on the axillary region and plexiform neurofibromas on the right side only. (ox.ac.uk)
Beignets3
- renowned for its delicious cafe au lait and beignets, Café Du Monde is a New Orleans tradition. (tripping.com)
- Along the streets of the French Quarter, you'll find New Orleans staples like Brennan's famous bananas foster and Cafe du Monde's quintessential beignets . (booknola.com)
- This iconic beignet shop is open 24/7, 7 days a week, serving just two items: cafe au lait and beignets. (booknola.com)
Macules3
- 2. The diagnostic and clinical significance of café-au-lait macules. (nih.gov)
- 14. A case of agminated lentiginosis with multiple café-au-lait macules. (nih.gov)
- Hypomelanotic macules are otherwise known as ash-leaf spots due to their resemblance to Sorbus aucuparia, or mountain-ash, leaves. (ericlowitt.com)
Light brown spots1
- cafe-au-lait spots , light-brown spots that may deepen in color (or even first appear) as the child grows older. (kidshealth.org)
Mongolian1
- Mongolian spots , flat patches of slate-blue or blue-green color that look like ink stains on the back, buttocks, or elsewhere on the skin, are found in more than half of Black, Native American, and Asian infants and less often in white babies. (kidshealth.org)
Pigmentation1
- Benoquin Cream 20% is not effective for the treatment of cafe-au-lait spots, pigmented nevi, malignant melanoma or pigmentation resulting from pigments other than melanin (e.g.: bile, silver, or artificial pigments). (nih.gov)
Multiple3
- 1. Diagnostic outcome in children with multiple café au lait spots. (nih.gov)
- 3. Familial multiple cafe au lait spots. (nih.gov)
- People would have large brown ones, small brown ones, an oddly shaped scar, or multiple spots here and there that they'd be proud to show. (kristinapolley.com)
Skin1
- Tiny, flat, yellow or white spots on the nose and chin, which are caused by the collection of secretions in skin glands and will disappear within the first few weeks. (kidshealth.org)
Large1
- They're usually of no concern unless they're large or there are six or more spots on the body . (kidshealth.org)
Casual3
- Small, quaint, Ten Tables is an adorable local restaurant where you can have a casual comfortable, yet elegant meal, comme à la maison . (latartinegourmande.com)
- Most fine dining spots in the French Quarter require a business casual dress code. (booknola.com)
- However, our list of tastiest restaurants includes plenty of casual, low-key restaurants with no reservation or dress code required. (booknola.com)
White1
- The color mix shades from the mocha pink of the original 'Café au Lait' to the lavender-pink of 'Café au Lait Rosé' and the unabashed pink with purple and sometimes white streaks of 'Café au Lait Royal. (whiteflowerfarm.com)
Orleans2
- recommended by New Orleans locals on Tripping.com and awarded "Best Soul Food Restaurant" by bestofneworleans.com, Willie Mae's is known for having some of the best fried chicken around. (tripping.com)
- It wouldn't be a New Orleans food round-up if we didn't mention Cafe du Monde. (booknola.com)
Open4
- No one can write that song, write that book, perform that play, create that movie, open that cafe, create that vaccine, build that car, paint that mural, work Wall Street, or do anything exactly how God intended it to be done by you. (kristinapolley.com)
- The hotel has a few guests, but not enough to keep the restaurant open. (talilandsmanart.com)
- Back in Seki Onsen village, we spotted a cafe that was open. (talilandsmanart.com)
- Left ok, but the next blow was that the boulangerie in the village which I'd spotted last night had decided not to open. (rogerco.uk)
People1
- Once more, as we were the last people to leave the restaurant, I left the place feeling inspired from gorgeous food and company. (latartinegourmande.com)
Milk1
- Order a cup of cafe au lait to go with it, which is coffee with steamed milk added. (booknola.com)
Coffee1
- Serving hot little pillows of sweet fried dough and chicory-blended coffee since 1862, it is a popular spot in any season. (tripping.com)
Common1
- CONCLUSIONS: The study results showed that the most common complication in the study population was Cafe au lait spot. (bvsalud.org)
Small1
- Two additional family members (a brother and a sister of the proband) presented only small CAL spots. (ox.ac.uk)
Flat1
- If these flat spots become more visible or start to "bubble" outward, get them checked ASAP! (kristinapolley.com)
Left1
- They had one pain au chocolate left so I grabbed it with my grand cafe au lait and started to feel better. (rogerco.uk)
Favorite2
- Or maybe I have learned to memorize the way since we have recently spent quite a few evenings in one of our favorite dining spots. (latartinegourmande.com)
- If you're looking for a quick, inexpensive, on-the-go crowd favorite, this is your spot. (booknola.com)
Town2
- located in a post-industrial Warehouse District space, Cochon is one of the hottest, most-written about restaurants in town. (tripping.com)
- one of the top Creole restaurants in town, Jaques Imos offers eccentric dining options. (tripping.com)
Popular1
- It's known for its popular Cajun-Creole restaurants, but the French Quarter is home to many more cultures and cuisines. (booknola.com)
Food1
- We've compiled our top 15 tastiest restaurants in the French Quarter to get you started on your Nola food tour! (booknola.com)