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Cafe-Au-Lait Macule

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102. Ichthyosis Fetalis (Treatment)

pain and delay in walking. [ ] Pruritus was reported in 44% of patients, heat and cold intolerance was found in 36%, reduced sweating was found in 28%, and photosensitivity and pigmented macules were found in one patient each. [ ] Poor hair growth and nail deformities were common. Hearing impairment may result from obstruction of the ear canals by skin debris. Developmental delay and normal intellectual development are described. Rajpopat et al reported that most school-aged survivors were (...) of Dermatology, Wake Forest University School of Medicine Disclosure: Nothing to disclose. Wen Lyn Ho, MBBCh, BAO(HON), MRCPI Clinical Fellow in Pediatric Dermatology, British Columbia Children’s Hospital, Canada Wen Lyn Ho, MBBCh, BAO(HON), MRCPI is a member of the following medical societies: , , Disclosure: Nothing to disclose. Acknowledgements The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Sheila Au, MD, to the development and writing

2014 eMedicine.com

103. Bloom Syndrome (Congenital Telangiectatic Erythema) (Treatment)

with photosensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable. [ ] Identification of café au lait macules by dermatologists would help to identify the risk of neoplasms in these patients. [ ] Immunoglobulin replacement can be instituted in cases of severe hypogammaglobulinemia. Infections should be managed thoroughly. Associated diabetes should be managed properly. Medical treatment of cancers in patients with Bloom syndrome has many challenges; chemotherapy-induced

2014 eMedicine.com

104. Neurological History and Physical Examination (Treatment)

dorsal root ganglia. Coffee-brown pigmented (ie, caf é; au lait) spots of varying sizes, usually greater than 1.5 cm in diameter, and axillary freckling are seen in neurofibromatosis. These are observed in addition to or in the absence of the characteristic blubbery subcutaneous tumors that give the condition its name. See the image below. Axillary freckling as seen in neurofibromatosis. Tufts of hair (satyr's tail), dimples, and large moles along the spine may indicate spina bifida occulta (...) . If the examiner can hear the sound after the patient has stopped hearing it, then hearing loss is suspected. The vestibular portion of the nerve enters the brainstem along with the cochlear portion. It transmits information about linear and angular accelerations of the head from the utricle, saccule, and semicircular canals of the membranous labyrinth to the vestibular nucleus. Linear acceleration is monitored by the macules in the utricles and saccules; angular acceleration is monitored by the cristae

2014 eMedicine.com

105. Neurofibromatosis, Type 1 (Treatment)

: Controversies and recommendations. Ann Neurol . 2007. 61:189-98. . Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet . 2009 Jul. 46(7):431-7. . Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatr Clin North Am . 2010. 57:1131-53. . Karagiannis A, Mikhailidis DP, Athyros VG, et al. Pheochromocytoma: an update on genetics (...) , cutaneous neurofibromas. However, careful surgical resection of small or large neurofibromas may leave an even smaller, less prominent scar. Although laser treatment has been used for various cutaneous, hyperpigmented lesions (eg, port-wine stains, tattoos), it has not yet proven successful in permanent removal of café-au-lait spots. Use of chemotherapy to treat malignant peripheral nerve sheath tumors (MPNSTs) that are unresectable or metastatic has been debated for a number of years, with less than

2014 eMedicine.com

106. Piebaldism (Treatment)

. An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis. Eur J Dermatol . 2018 Feb 1. 28 (1):119-120. . Njoo MD, Nieuweboer-Krobotova L, Westerhof W. Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. Br J Dermatol . 1998 Nov. 139(5):829-33. . Garg T, Khaitan BK, Manchanda Y. Autologous punch grafting for repigmentation (...) -lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome. Am J Med Genet A . 2012 May. 158A(5):1195-9. . Sleiman R, Kurban M, Succaria F, Abbas O. Poliosis circumscripta: Overview and underlying causes. J Am Acad Dermatol . 2013 Jul 12. . Park SY, Kim HJ, Ahn SK. Piebaldism with neurofibromatosis type I: a familial case. Ann Dermatol . 2014 Apr. 26(2):264-6. . . Schepis C, Failla P, Siragusa M, Chiavetta V, Ruggeri G, Calì F

2014 eMedicine.com

107. Psoriasis (Overview)

psoriasis: Psoriasis that occurs within a dermatome Examination in patients with psoriasis includes the following: Dermatologic: Most commonly, scaling erythematous macules, papules, and plaques; area of skin involvement varies with the form of psoriasis Ocular: Ectropion and trichiasis, conjunctivitis and conjunctival hyperemia, and corneal dryness with punctate keratitis and corneal melt [ ] ; blepharitis Musculoskeletal: Stiffness, pain, throbbing, swelling, or tenderness of the joints; distal joints (...) , Paolino G, Aprea Y, et al. Safety and efficacy of anti-tumor necrosis factors α in patients with psoriasis and chronic hepatitis C. World J Clin Cases . 2016 Feb 16. 4 (2):49-55. . Komrokji RS, Kulasekararaj A, Al Ali NH, Kordasti S, Bart-Smith E, Craig BM, et al. Autoimmune Diseases and Myelodysplastic Syndromes. Am J Hematol . 2016 Feb 13. . Sorensen EP, Algzlan H, Au SC, Garber C, Fanucci K, Nguyen MB, et al. Lower Socioeconomic Status is Associated With Decreased Therapeutic Response

2014 eMedicine.com

108. Frontal Lobe Epilepsy (Overview)

onset Physical examination in focal lobe epilepsy is typically normal but may reveal signs suggestive of syndromes or structural lesions that may be associated with epilepsy, such as the following: Facial dysmorphisms Cafe-au-lait spots, hypomelanotic macules, or neurofibromas Spastic hemiparesis, asymmetric muscle bulk See for more detail. Diagnosis For new-onset seizures, blood tests should be performed to rule out a metabolic cause (eg, hypoglycemia). For patients with an established diagnosis

2014 eMedicine.com

109. Speckled Lentiginous Nevus (Overview)

. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol . 2002 Mar-Apr. 12(2):133-5. . Jordaan HF, Happle R. Phacomatosis spilorosea associated with lymphoedema. Br J Dermatol . 2008 Aug. 159(2):489-91. . Kopf AW, Levine LJ, Rigel DS, Friedman RJ, Levenstein M. Prevalence of congenital-nevus-like nevi, nevi spili, and cafe au lait spots. Arch Dermatol . 1985 Jun. 121(6):766-9. . Borrego L, Hernandez Santana J, Baez O, Hernandez Hernandez B. Naevus (...) lait macules at birth, which later develop background hyperpigmentation and darkly pigmented macules and papules over months, years, or sometimes decades. The prevalence rate of speckled lentiginous nevus is 1.3-2.1% in school-aged children and adolescents. In adults, the frequency of speckled lentiginous nevi larger than 1.5 cm in diameter is 2.3%. Previous Next: Prognosis Speckled lentiginous nevus is a benign neoplasm. In rare instances of malignant transformation within a speckled lentiginous

2014 eMedicine.com

110. Albright Syndrome (Overview)

puberty caused by this condition is far more common in girls than in boys. In girls, it is the result of estrogen excess from ovarian follicular cysts. [ ] Because the sexual precocity associated with MAS is gonadotropin-independent, it is more accurately described as pseudoprecocious puberty. The café-au-lait spots in MAS are large melanotic macules, sometimes referred to as café-au-lait macules (CALMs). Except for hyperpigmentation of the basal layer, no abnormal pathology is seen. Fewer than 10 (...) in McCune-Albright syndrome. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling. Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule

2014 eMedicine.com

111. Mongolian Spot (Overview)

PC, Cirio A, Cervini AB. [Phakomatosis pigmentovascularis cesioflammea: a case report]. Arch Argent Pediatr . 2018 Feb 1. 116 (1):e121-e124. . Hayashi S, Kaminaga T, Tantcheva-Poor I, Hamasaki Y, Hatamochi A. Patient with extensive Mongolian spots, nevus flammeus and nevus vascularis mixtus: A novel case of phacomatosis pigmentovascularis. J Dermatol . 2016 Feb. 43 (2):225-6. . Neri I, Lambertini M, Tengattini V, Rivalta B, Patrizi A. Halolike Phenomenon Around a Café au Lait Spot Superimposed (...) on a Mongolian Spot. Pediatr Dermatol . 2017 May. 34 (3):e152-e153. . Temel AB, Bassorgun CI, Nur B, Alpsoy E. Mongolian spots combined with halo-like disappearance surrounding café au lait spots. Indian J Dermatol Venereol Leprol . 2018 Jul-Aug. 84 (4):474-477. . AlJasser M, Al-Khenaizan S. Cutaneous mimickers of child abuse: a primer for pediatricians. Eur J Pediatr . 2008 Nov. 167(11):1221-30. . Pessach Y, Goldberg I, Sprecher E, Gat A, Harel A. An unusual presentation of congenital dermal melanocytosis

2014 eMedicine.com

112. Movement Disorders in Individuals with Developmental Disabilities (Overview)

movements, such as dystonia or athetosis. Sensory: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations

2014 eMedicine.com

113. Mental Retardation (Overview)

: Children with disabilities and ID are more likely than other children to have visual impairment and hearing deficits Skin: Findings can include hyperpigmented and hypopigmented macules, such as café-au-lait macules (associated with neurofibromatosis type 1), as well as ash-leaf spots (associated with tuberous sclerosis), fibromas, and irregular pigmentation patterns Extremities: Although ID with multiple congenital anomalies and major malformations accounts for only 5-10% of all cases, most

2014 eMedicine.com

114. Mental Retardation (Overview)

in these patients. [ , , , ] Disorders with autosomal-dominant inheritance is an example of the disorders in this group, which might be associated with ID. It is caused by a mutation in a gene affecting the formation of the ectodermal layer of the embryo. Because the skin and the CNS develop from this layer, abnormalities are seen in both. The skin lesions include angiofibromas in the form of macules on the cheeks (adenoma sebaceum), with a butterfly-like distribution, especially after puberty. Café au lait

2014 eMedicine.com

116. Laser Treatment of Benign Pigmented Lesions (Overview)

such as and . Because the green wavelength of these lasers is also well absorbed by oxyhemoglobin, purpura formation may occur following laser irradiation. The purpura resolves 1-2 weeks after treatment, with resolution or lightening of the clinical lesion 4-8 weeks after treatment. Purpura occasionally leads to . Flashlamp-pumped pulsed dye laser treatment results in excellent clearing of epidermal pigmented lesions (eg, lentigines, ephelides, , café au lait macules). In a study of 492 benign epidermal pigmented (...) lesions. A typical treatment response includes purpura lasting 5-7 days, followed by subsequent sloughing of the treated lesion at 7-14 days. The underlying new skin is pink for 2-3 days but fades to normal skin color with rare textural changes or scarring. In another study, 25 patients with solar lentigines showed excellent laser-induced clearing after 1-2 treatments. Fourteen patients with café au lait macules showed complete clearing after 3-6 treatments. Two patients with nevus spilus and 2

2014 eMedicine.com

117. Dermatologic Manifestations of Hematologic Disease (Overview)

, and predisposition to malignancy. [ ] Patients have an increased incidence of spontaneous chromosomal abnormalities, due to problems with DNA repair. [ ] By the end of childhood, patients with Fanconi anemia develop hypoplastic bone marrow that affects all 3 lineages. Skin findings consist of several abnormalities of pigmentation. Many patients present with café au lait spots, which, in most individuals, are present at birth. Diffuse hyperpigmentation, which can also be an acquired phenomenon because of iron (...) or lupus anticoagulant, which can be detected based on the prolonged activated partial thromboplastin time (aPTT), Kaolin clotting time, or dilute Russell Viper venom time. In a large retrospective study from the Mayo Clinic, 41% of patients with lupus anticoagulant had skin lesions as the first sign of antiphospholipid syndrome. [ ] Cutaneous manifestations include livedo reticularis, necrotizing vasculitis, livedo vasculitis, thrombophlebitis, cutaneous ulceration and necrosis, erythematous macules

2014 eMedicine.com

118. Piebaldism (Overview)

, Romano I, Persechino S. A case of piebaldism in a two-year-old female infant. G Ital Dermatol Venereol . 2016 Apr. 107 (2):208-9. . Duarte AF, Mota A, Baudrier T, Morais P, Santos A, Cerqueira R, et al. Piebaldism and neurofibromatosis type 1: family report. Dermatol Online J . 2010 Jan 15. 16(1):11. . Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J . 2011 Nov 15. 17(11):13. . Stevens CA, Chiang PW, Messiaen LM. Café-au-lait macules (...) with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis. Eur J Dermatol . 2018 Feb 1. 28 (1):119-120. . Njoo MD, Nieuweboer-Krobotova L, Westerhof W. Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. Br J Dermatol . 1998 Nov. 139(5):829-33. . Garg T, Khaitan BK, Manchanda Y. Autologous punch grafting for repigmentation in piebaldism. J Dermatol . 2003 Nov. 30

2014 eMedicine.com

119. McCune-Albright Syndrome (Overview)

puberty caused by this condition is far more common in girls than in boys. In girls, it is the result of estrogen excess from ovarian follicular cysts. [ ] Because the sexual precocity associated with MAS is gonadotropin-independent, it is more accurately described as pseudoprecocious puberty. The café-au-lait spots in MAS are large melanotic macules, sometimes referred to as café-au-lait macules (CALMs). Except for hyperpigmentation of the basal layer, no abnormal pathology is seen. Fewer than 10 (...) in McCune-Albright syndrome. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling. Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule

2014 eMedicine.com

120. McCune-Albright Syndrome (Treatment)

. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling. Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule/patch. The degree of pigmentation is fairly uniform. Fibrous dysplasia of a long bone characterized by focal bony expansion, patchy areas of sclerosis (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTI3MjMzLXRyZWF0bWVudA== processing > McCune-Albright Syndrome Treatment & Management Updated: Jan 17, 2019 Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD Share Email Print Feedback Close Sections Sections McCune-Albright Syndrome Treatment Approach Considerations McCune-Albright syndrome (MAS) is a multisystemic condition with a host of variable presentations. Diagnosis and treatment of this syndrome require a high index of suspicion in any patient with characteristic café-au-lait spots

2014 eMedicine.com

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