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Cafe-Au-Lait Macule

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81. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. Full Text available with Trip Pro

, DNA sequencing, and microsatellite analyses. Minisatellite sequences across different species were compared using a gready clustering algorithm and genome-wide analysis of the distribution of minisatellite sequences was performed using R statistical software.We report four unrelated families with 16q24.1 duplications encompassing entire FOXF1. In a 4-year-old boy with speech delay and a café-au-lait macule, we identified an ~15 kb 16q24.1 duplication inherited from the reportedly healthy father

2014 BMC Medical Genetics

82. 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

83. 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

84. 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

85. 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

86. 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

87. 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

88. Epilepsy in Children with Mental Retardation (Overview)

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 accounts for only 5-10% of all

2014 eMedicine.com

89. Epilepsy in Adults with Mental Retardation (Overview)

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 accounts for only 5-10% of all

2014 eMedicine.com

90. Mental Retardation (Diagnosis)

), with a butterfly-like distribution, especially after puberty. Café au lait spots or nonpigmented ash leaf–shaped areas are also found. ID, epilepsy, and calcifications in the brain are seen, as are tumors. Epileptic seizures often begin as infantile spasms, which should alert the physician to look for other symptoms of this disorder. If tuberous sclerosis is diagnosed, both parents should be examined carefully because the mutation is inherited in approximately 28% of cases. Because of the dominant inheritance (...) with growth hormone improves somatic and behavioral deficits 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

2014 eMedicine.com

91. McCune-Albright Syndrome (Diagnosis)

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

92. Mental Retardation (Diagnosis)

: 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

93. Bloom Syndrome (Congenital Telangiectatic Erythema) (Follow-up)

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

94. Laser Treatment of Benign Pigmented Lesions (Diagnosis)

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

95. Speckled Lentiginous Nevus (Follow-up)

Mar. 34(2):133-5. . Happle R. 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 (...) A large unilateral speckled lentiginous nevus that contains numerous small dark macules. Extensive speckled lentiginous nevus. Prominent basal layer pigmentation similar to that seen in lentigo simplex (hematoxylin-eosin stain, original magnification X200). Elongated rete ridges and lentiginous proliferation of melanocytes at the dermal-epidermal junction (hematoxylin-eosin stain, original magnification X200). Junctional melanocytic nevus composed of small nests of melanocytes and lentiginous

2014 eMedicine.com

96. Mongolian Spot (Diagnosis)

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

97. Movement Disorders in Individuals with Developmental Disabilities (Diagnosis)

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

98. Albright Syndrome (Follow-up)

. 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

99. Psoriasis (Diagnosis)

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

100. Piebaldism (Diagnosis)

, 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

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