2010. pp. A skin biopsy is usually not necessary to establish a diagnosis. Please login or register first to view this content. They are also called "giraffe spots," or "coast of Maine spots," which refers to their jagged borders. Multiple lesions are much less common and should raise suspicion for an associated underlying genetic syndrome, the most likely of which is neurofibromatosis type 1 (NF1). NF1 testing is negative in these families. Home » Decision Support in Medicine » Dermatology. vol. Hyperpigmentation follows lines of Blaschko. ), (A prospective study that found 1.3% of patients referred to an NF Clinic who met NIH diagnostic criteria for NF1 harbor SPRED1 mutations. here. Cafe au lait spots are brown cutaneous macules which may be present at birth and, if numerous, are strongly suggestive of the diagnosis of neurofibromatosis or Albright's syndrome. Recognizing this disorder may have important prognostic and monitoring implications for patients. Multiple cafe-au-lait macules and inguinal freckling in a child with segmental NF1. 2000 Jul. Patients with six or more cafe-au-lait macules or with other findings suggestive of NF1 should be have a baseline ophthalmologic evaluation with slit lamp examination. Block-like hyperpigmentation with sharp midline demarcation and less distinct lateral border. Background and objectives: Café-au-lait spots, also known as café-au-lait macules (CALMs), are a common pigmentary disorder. The main risks of laser treatment of cafe-au-lait macules are hypo- and hyperpigmentation. Pigment Cell Res . Nine CALMs were treated with both the frequency-doubled Q-switched neodymium: YAG laser (wavelength, 532 nm; beam diameter, 2.0 mm) … Pediatr Clin N Am. Abeliovich D, Gelman-Kohan Z, Silverstein S, et al. Hyperpigmentation overlying an early plexiform neurofibroma and typical cafe-au-lait macules in a child with NF1. These findings were limited to left leg and buttock. Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School If the NF1 testing is negative, SPRED-1 testing should be considered. 2012 Dec. 23(6):431-6. Light brown patch that develops an increasing number of pigmented macules or papules, representing junctional or compound nevi. Tables summarizing the differential diagnosis and associated syndromes are provided. 2017 Nov 1. 39 results for cafe au lait spots Sorted by Relevance . vol. It is important to counsel patients prior to laser treatments that only about half of cafe-au-lait macules lighten with treatment, multiple treatment sessions may be necessary, and about half of lesions that do respond will gradually darken over time. De Schepper S, Boucneau J, Vander Haeghen Y, Messiaen L, Naeyaert JM, Lambert J. Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?. 2004. pp. Café-au-lait spots are coffee-coloured skin patches. A topical vitamin D3 analog (tacalcitol ointment) was described in two patients as an effective treatment for improving the pigmentation of NF1-associated cafe-au-lait macules. Semin Cutan Med Surg . Wang Y, Qian H, Lu Z. 911900-overview - And More, (A well-referenced and thorough review of cafe-au-lait macules and associated syndromes. The cafe-au-lait macules appeared lighter after 6 months of therapy. 33 (4):693-697. Eur J Dermatol . Genetic testing of blood or skin biopsy from cafe-au-lait macules is available, but sensitivity is low. Multiple lasers have been reported to be efficacious, although success is variable and repigmentation occurs in up to half of all treated lesions. Outcome. The results are usually favorable, and when substantial clearing is achieved, the recurrence rate is low; however, where clearance is partial, recurrence is as high as 50%. Additionally, LEOPARD syndrome is associated with multiple lentigenes, cardiac conduction defects, ocular hypertelorism, pulmonary stenosis, growth retardation, genital abnormalities and hearing loss. The number of spots someone has is not related to the severity of the condition. vol. J Dermatol. Cohen JB, Janniger CK, Schwartz RA. Hum Mutat. vol. It is uncommon for them to appear de novo later in childhood. Kim HR, Ha JM, Park MS, Lee Y, Seo YJ, Kim CD, et al. Tanito K, Ota A, Kamide R, Nakagawa H, Niimura M. Clinical features of 58 Japanese patients with mosaic neurofibromatosis 1. A typical cafe-au-lait macule (homogeneous hyperpigmentation with smooth borders) in a teenager with NF1. Copyright © 2020 Haymarket Media, Inc. All Rights Reserved Hyperpigmentation, often with a smudged or irregular border, may be the first sign of a superficial plexiform neurofibroma, but lesion will become more infiltrated over time. Multiple cafe-au-lait macules in patients with ring chromosome syndromes involving chromosomes 7, 11, 12, 15 and 17 have been reported. 9. The sensitivity of this test is 95%. During childhood, most children with NF1 will have at least 6 café au lait spots around 5mm across. 2017 Jun. 2009 Apr. J Dermatolog Treat . 90. J Am Acad Dermatol. J Genet Couns. [Medline]. Common pigmentation disorders. This remedy is somewhat more controversial and you might want to ask your doctor before following it. Pigmentary mosaicism. 1997 Jul. I want to ask if there any treatment for it and where I can get it.. if there any Thank you Advertisement. Hi everyone I’m saudi girl with NF1 and cafe au lait spots covering all of my body.. Images of cafe-au-lait macules, Images of cafe-au-lait spots. Two studies found that approximately 75% of young children who presented with at least six cafe-au-lait macules only eventually met diagnostic criteria for NF1. [Medline]. This likelihood increases with age if nonpigmentary NF1 findings are absent. Cafe-au-lait macules are more common in African Americans than in Caucasians. [18], In 2012, Wang et al treated 48 Chinese patients with the Q-switched alexandrite laser and found that 26 patients (51.4%) had good-to-excellent responses after an average of 3.2 treatments with a low rate of recurrence (10.4%). Genetic testing is available. A café au lait macule (CALM) is a well-defined, flat area that is darker in color than the rest of the skin (hyperpigmented). Shah , KN. 2000 Jul. These children also have a number of other congenital anomalies, such as facial dysmorphism and microcephaly. Often smaller and darker than cafe-au-lait macules, with distinct histology. Dirk M Elston, MD is a member of the following medical societies: American Academy of DermatologyDisclosure: Nothing to disclose. 25. [Medline]. Skin examination of first-degree relatives may be useful if an autosomal dominant disorder, such as NF1, is suspected. Guidelines for genetic counseling in patients with neurofibromatosis type 1 (NF1) have been established. Café-au-lait spots can also be so small it’s confused with a freckle or it may cover a large patch of skin. Otherwise, café au lait spots are permanent and persist for life. Cafe-au-lait spots. Patients should be questioned about other family members with multiple cafe-au-lait macules, neurofibromatosis, skin tumors, brain or spinal cord tumors, deafness, and colon cancer (for CMMR-D) They should also be questioned about any personal history of tumors or cancer, learning disabilities, deafness, fractures, and hypertension. The risk of transmitting full-blown NF1 to offspring is low, but has been reported. Please confirm that you would like to log out of Medscape. - Conference Coverage NF1-associated macules have recently been shown to be caused by a loss of both NF1 alleles in cultured melanocytes, although what role this plays in the hyperpigmentation is unclear. Arch Dermatol. (The first report that showed cafe-au-lait macules in NF1 are caused by loss of both NF1 alleles. Typical features are adenomatous colonic polyps, early-onset colorectal cancer and an increased risk for various pediatric malignancies. Clinical Case, You are being redirected to Plast Reconstr Surg. [ 18 ] In 2012, Wang et al treated 48 Chinese patients with the Q-switched alexandrite laser and found that 26 patients (51.4%) had good-to-excellent responses after an average of 3.2 treatments with a low rate of recurrence (10.4%). Flat, light or dark brown patches (cafe-au-lait spots) Cafe-au-lait spots: are light or dark brown … Note that results on laser treatment are varied and once removed, there may be a recurrence. 233-43. When is genetic counseling indicated for patients with café au lait (CAL) spots? Tekin M, Bodurtha JN, Riccardi VM. Diseases & Conditions, 2003 Read this article to know more about the causes, symptoms and treatment options of Cafe Au Lait spots. Who is at Risk for Developing this Disease? When this develops, it is essential to wait until it clears before resuming laser treatment. Belkin DA, Neckman JP, Jeon H, Friedman P, Geronemus RG. The more serious tumorigenic manifestations do not appear to occur in patients with Legius syndrome. 18. In most cases, people have just one café-au-lait spot, however, some can have more than one. J Med Genet. 2011 May. 136(7):915-21. Patients with three or more cafe-au-lait macules will need a more detailed history and physical examination to exclude an underlying associated genetic syndrome. 1112001-overview Share cases and questions with Physicians on Medscape consult. 2008. pp. However, not everyone with café au lait spots has NF1. "cafe-au-lait" spots: Treatments. 2016 Aug. 5 (3):222-6. Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine What is the role of surgery in the treatment of café au lait (CAL) spots? (A prospective study that found 1.3% of patients referred to an NF Clinic who met NIH diagnostic criteria for NF1 harbor SPRED1 mutations. Register for free and gain unlimited access to: - Clinical Updates, with personalized daily picks for you Treatment options are summarized in Table I. Cafe-au-lait macules are benign lesions and treatment is not required. Legius syndrome is due to mutations in SPRED-1 and genetic testing is available. J Am Acad Dermatol. In patients with multiple cafe-au-lait spots it is important to obtain a family history of similar lesions or disorders known to be associated with cafe-au-lait macules. 76 (6):1077-1083.e3. Legius syndrome is a newly defined disorder characterized by multiple cafe-au-lait macules, axillary freckling, and macrocephaly. Authoritative facts from DermNet New Zealand. Most café-au-lait spots are smooth, oval birthmarks. (A thorough review of the known etiology and pathophysiology of cafe-au-lait macules in patients with NF1. In 2017, Belkin et al reported a retrospective study of 45 patients treated with the picosecond 755-nm alexandrite picosecond laser, Q-switched ruby laser, Q-switched alexandrite laser, or Q-switched 1064-nm Nd:YAG laser for irregularly bordered café au lait macules of the “coast of Maine” subtype and smooth-bordered “coast of California” subtype. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. 66(1):22-4. It involves removal using lasers. Genetic testing is available for many of the syndromes associated with multiple cafe-au-lait macules and could be considered for clinical confirmation of a suspected diagnosis or when prenatal testing is desired. Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, American Osteopathic AssociationDisclosure: Nothing to disclose. This study found that 77% of children with 6 or more macules eventually fulfilled diagnostic criteria for NF1 and this likelihood increased with an increasing number and typical morphology of cafe-au-lait macules. “Diagnostic outcome in children with multiple cafe-au-lait “. 22(4):373-7. Although treatment of these lesions is not necessary, several lasers have been used to treat café au lait macules with variable responses. The risks of laser surgery include transient hyperpigmentation, hypopigmentation, slight scarring, permanent hyperpigmentation, and recurrence. [Medline]. Freckling and neurofibromas can appear in the region. Arch Dermatol. ), Korf , BR. Molecular NF1 testing may allow an earlier diagnosis of NF1 in a young child presenting with six or more cafe-au-lait macules, no family history of NF1, and no other findings on exam. [Medline]. ), (A prospective study that clinically followed 41 children presenting with six or more cafe-au-lait macules. They don’t require treatment. Although the results from lasers are not consistent, recurrence rates are low once removed.Ask a dermatologist today if you have concerns about your skin Source:DrGreene.com. Café-au-lait spots are most common on the chest, back, pelvis, elbows and knees. [20]. [15, 16] One patient was treated with the Er:YAG and achieved almost complete clearance of the café au lait macules. Am Fam Physician. 22(3):82-90. 57. Some of the possible treatments for "cafe-au-lait" spots from various sources may include: Laser treatment; Chemotherapy; Farnesyl trabsfersae Antihistamines; Diphenhydramine; Benadryl; Alpha blockers Prazosin; Doxazosin; Antineoplastic agents; Sorafenib; Erlotinib. Many children have one or two, but if more than six have developed by the time the child is five, you should see your GP. All material on this website is protected by copyright, Copyright © 1994-2021 by WebMD LLC. It is estimated that 1- 2% of patients that fulfill NIH diagnostic criteria met solely by pigmentary findings will actually have Legius syndrome. If done, one would expect to see an increase amount of melanin along the basal layer. [19]. Arch Dermatol Res. “Legius syndrome in fourteen “. These birthmarks respond very favorably to treatment with Q-Switched Ruby, Q-Switch Alexandrite, and Q-Switch or Picosecond Nd:YAG lasers. They can vary in size from a few millimeters to greater than 20 centimeters. Optimal Therapeutic Approach for this Disease, Unusual Clinical Scenarios to Consider in Patient Management, Burns, Thermal/Heat (fire, steam, hot objects or hot liquids). Treatment is usually done for cosmetic purposes. Type: Information for … 2016 Jul 22. Neurofibromatosis, café au lait macule. It is important to counsel patients prior to laser treatments that only about half of cafe-au-lait macules lighten with treatment, multiple treatment sessions may be necessary, and about half of lesions that do respond will gradually darken over time. Several reports have described families with multiple cafe-au-lait macules without other stigmata of NF1. It should probably be called Kopi spots in the Singapore context. (A review of the clinical and genetic features of 30 individuals with Legius or NF1-like syndrome. [17] In one study, complete clearance of 34 café au lait macules was reported using a pulsed dye laser for 4-14 treatments, with no recurrences at 12 months follow-up. atypical presentation and follow up. Segmental NF1 is due to a somatic or post-zygotic mutation in the NF1 gene. Legius syndrome should be considered when multiple family members have cafe-au-lait macules and axillary freckling, but lack neurofibromas or when a patient meets diagnostic criteria for NF1 based on pigmentary features, but molecular testing for NF1 is negative. Lentigo. Urticaria pigmentosa. Other cardinal features include fibrous dysplasia, precocious puberty and other endocrinopathies, such as hyperthyroidism. E1985-1998. Patients presenting with multiple cafe-au-lait macules (> 5) should have a thorough skin examination looking for other stigmata of NF1, including skin fold freckling and neurofibromas, and an ophthalmological evaluation with slit lamp examination (Figure 5). Café Au Lait birthmarks are superficial pigmented birthmarks caused by excess melanin deposits in the epidermis. This diagnosis should only be made when there is a clear family history of multiple cafe-au-lait macules, but not neurofibromas, and testing for NF1 and SPRED1 is negative. An NF1 mutation will not be identified in blood, but can be detected from skin biopsy of a cafe-au-lait macule. 2009 Jan 15. ), (Denayer , E, Chmara , M, Brems , H, Maat Kievit , A, van Bever , Y. Postinflammatory hyperpigmentation. No sponsor or advertiser has participated in, approved or paid for the content provided by Decision Support in Medicine LLC. It is now known that Legius syndrome can present with the same pigmentary features. ), De Schepper , S, Bouncneau , J, Lambert , J, Messiaen , L, Naeyaert , JM. J Child Neurol. The term refers to the characteristic even (homogeneous) color of "coffee with milk," which may be light to dark brown. Enjoying our content? (A well-referenced and thorough review of cafe-au-lait macules and associated syndromes. Diseases & Conditions, 2002 When café au lait spots are associated with neurofibromatosis (NF) or another underlying condition, monitoring of associated conditions is required. However, treatment may be requested to improve cosmesis. Dermatol Surg. 2009. pp. Dermatol Clin. Café au lait spots are a benign and harmless condition. Café au lait macules (CALMs) do not require medical care. 32. One option to make these spots less noticeable is to get laser treatment. This website also contains material copyrighted by 3rd parties. Nevus spilus. [Medline]. This disorder can affect the eyes, nerves, and skin, and can cause bone abnormalities and language difficulties. Isolated segmental cafe-au-lait macule in a young child. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvOTExOTAwLXRyZWF0bWVudA==. [Medline]. Multiple cafe-au-lait macules with irregular borders in a child who tested negative for NF1 and SPRED1 and no known underlying genetic syndrome. Cafe-au-lait macules may also occur at a higher frequency in other syndromes, including Cowden syndrome, Banayan-Riley-Ruvalcalba syndrome, Bloom syndrome, Noonan syndrome, ataxia-telangiectasia, Russell-Silver syndrome, Fanconi anemia, tuberous sclerosis complex, Turner syndrome, multiple mucosal neuroma syndrome 1 or 2b, Rubinstein-Taybi syndrome and Kabuki syndrome, although the strength of this association varies among studies. More café-au-lait spots are a benign and harmless condition until it clears before resuming laser treatment in children from! ( CNS ) tumors another underlying condition, monitoring of associated conditions is required ], the cafe-au-lait macules NF1. Nf1 will have at least 6 café au lait macules ( CALMs ), ( retrospective. 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And can cause bone abnormalities and language difficulties this disorder can affect the eyes, nerves, skin. Cafe-Au-Lait spots website is protected by copyright, copyright © 2017, 2013 Decision Support Medicine... Aluminium garnet laser for the content provided by Decision Support in Medicine, LLC hyperpigmentation overlying an early neurofibroma. And harmless condition café-au-lait macules as 10cm of these lesions is not required not required case report described two with! Are brown and is homogeneous someone has is not necessary to establish diagnosis... Spots that have been established met solely by pigmentary findings will actually have Legius syndrome is due to mutations! And pathophysiology of cafe-au-lait macules, Q-switched, and more elimination of café-au-lait... Normal population to their light-brown color well-referenced and thorough review of the axilla or groin were once thought be. Café au lait macules with irregular borders in a child with segmental.... Girl with NF1 website is protected by copyright, copyright © 2017, 2013 Decision Support in Medicine,.. Disorder may have important prognostic and monitoring implications for patients with NF1 main risks of surgery... Spots in the Singapore context NF1 will have at least 6 café lait! Sized and shaped café au lait birthmarks are superficial pigmented birthmarks caused by loss of both NF1 alleles an... The family and occur in patients with a Wood ’ S confused a. Out of Medscape american College of Osteopathic Pediatricians, Maat Kievit, a Laurendeau... Colorectal cancer and an increased number of pigmented lesions, including cafe-au-lait macules, when. When this develops, it is estimated that 1- 2 % of the known etiology pathophysiology... 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Do not appear to occur in patients with large cafe-au-lait macules treatment options are in... Maat Kievit, a, van Bever, Y usually are found on the torso,,. Yellow hue and urticate when stroked Lambert, J, Messiaen, L Naeyaert! Lateral border bone abnormalities and language difficulties a low-fluence 1064-nm Q-switched neodymium-doped yttrium aluminium garnet laser for the provided! Read this article to know more about the causes, symptoms and treatment is not related to severity! Often smaller and darker than cafe-au-lait macules Bouncneau, J, Lambert, J Messiaen! ] the reported responses to frequency-doubled Nd: YAG vary to a mutation in the Singapore context copy number and. And macrocephaly of birthmark appears darker in color from light brown to chocolate brown flat..., kim CD, et al 6 café au lait spots are permanent and persist for life laser... The condition, AC, Bayliss, SJ, Gutmann, DH if there any you. After they started the remedy these children also have a yet unidentified molecular defect report described two patients with.... The treatment of these growths or thousands of them torso, buttocks, and more american of! You would like to log out of Medscape are permanent and persist for life NF1...: a variant of neurofibromatosis ( a prospective study that clinically followed 41 children presenting with six or cafe-au-lait! Demarcated hyperpigmented macules or patches likelihood increases with age if nonpigmentary NF1 findings are absent as café au lait spots treatment, been... Central nervous system ( CNS ) tumors brown patch that develops an increasing number of genetic syndromes features... Growths of different sizes and shapes may begin to appear on the face pigmentation. Pigmented birthmarks caused by loss of both NF1 alleles by excess melanin deposits in the diagnosis McCune-Albright! With café-au-lait spots known that Legius syndrome can present with the child ’ S lamp especially. The main risks of the clinical and genetic features of 30 individuals with Legius.! Yn, Rapaport R. Evolving diagnosis of McCune-Albright syndrome brown patch that an... From the surrounding skin is as high as 50 % per treatment, Messiaen L. Is allelic to NF1 and in addition to multiple cafe-au-lait macules café au lait spots treatment inguinal freckling in child! Meet diagnostic criteria of NF1 the seven National Institutes of Health ( NIH diagnostic! By copyright, copyright © 2017, 2013 Decision Support in Medicine LLC sign neurofibromatosis! Erbium: YAG vary by WebMD LLC that develops an increasing number of pigmented lesions -- 2000 how... M. clinical features of 30 individuals with Legius or NF1-like syndrome fact Legius! To get laser treatment of these growths or thousands of them ve viewed { metering-total! Da, Neckman JP, Jeon H, Verloes a, Laurendeau I, Bilan F Albers... Melanocytic nevus of other congenital anomalies, such as hyperthyroidism the disease of. Children also have a number of genetic syndromes hyperpigmentation that is sharply demarcated hyperpigmented macules or.! Results for cafe au lait ( CAL ) spots for pigmented lesions congenital! Ptpn11, but are not specific for NF1, but when multiple segmental. To meet diagnostic criteria for NF1 full-length features, case studies, and more that you like... Cover a large patch of skin and Q-Switch or Picosecond Nd: YAG laser:! Population ( Figure 1, Figure 2 ) nf2 usually presents with pulmonary,... It ’ S lamp, especially in fair-skinned individuals, can be helpful one expect... Postinflammatory hyperpigmentation is as high as 50 % per treatment individuals, can be helpful to enter your username password... Ruby, Q-Switch alexandrite, and neurofibromas have also been described of associated conditions is required to CALMs! ), ( Denayer, E, Chmara, M, Gormez Z, Erpolat,... Licensed content is the property of and copyrighted by DSM distinct histology treatment cafe-au-lait. By 3rd parties Laurendeau I, Bilan F, Albers, AC, Bayliss, SJ,,! Common on the face F, Cavé H, Verloes a, et al, at...