Cafe au lait spot in neurofibromatosis and in normal individuals

Johnson, B. L.

doi:10.1001/archderm.102.4.442

Cited by 18 publications

(19 citation statements)

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“…Nevus spilus may be found in neurofibromatosis and the relationship of nevus spilus to cafe au lait macules is not well understood and both may occur in the same patient (Eady et al 1975). However, macromelanosomes are not present in cafe au lait macules of normal people (Johnson & Charneeo 1970) or of patients with Albright's syndrome (Benedict et al 1968). Glimcher & Szabo (1978) described giant pigment granules in scrotal skin of black Long-Evans rats but these are 3 times smaller than those of humans.…”

Section: Discussionmentioning

confidence: 99%

Giant melanosomes in the B‐K mole syndrome

et al. 1982

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Section: Discussionmentioning

confidence: 99%

Giant melanosomes in the B‐K mole syndrome

et al. 1982

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“…The presence of six or more cafe au lait spots larger than 1.5 em in diameter makes the diagnosis of neurofibromatosis more likely (5). ' Johnson and Charneco (6) reported that the cafe au lait spots of patients with neurofibromatosis contain more dopa-positive melanocytes per square millimeter than does their surrounding skin. On the other hand, cafe au lait spots in patients without neurofibromatosis contained fewer dopa-positive melanocytes than did the surrounding skin (6).…”

Section: Discussionmentioning

confidence: 99%

The Phenomenon of Halo‐like Disappearance of the Mongolian Spot on Lesions Combined With Café Au Lait Spot or Acquired Pigmented Nevus

Hamada

Suzuki

1981

The Journal of Dermatology

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When café au lait spots or pigmented nevi were combined with Mongolian spot lesions, whitish haloes were observed in the areas surrounding these café au lait spots and pigmented nevi. The pathogenesis of this halo‐like phenomenon was investigated. The materials were two Japanese girls who had Mongolian spots present at birth over the sacrum and buttocks. In case 1, an eight‐month‐old, café au lait spots and in case 2, a six‐month‐old, brownish black pigmented spots appeared about one month after birth and gradually increased in size and number on the trunk and extremities. In the café au lait spot and pigmented nevus (histologically compound type) lesions and their boundary areas, a whitish halo‐like zone, dermal melanocytes were small and round, as compared with those of surrounding Mongolian spots, although only slightly decreased in number. The characteristic bipolar dendrites were almost imperceptible. The dopa reaction of dermal melanocytes was also decreased. In the boundary halo‐like areas in both cases, epidermal melanin granules and dopa‐positive melanocytes were almost identical to those of the surrounding Mongolian spot. Mongolian spots were already present at birth in both cases, but the café au lait spots and pigmented nevi definitely appeared to arise on these Mongolian spot after birth. The Mongolian spots seemed to disappear at the sites of café au lait spots, pigmented nevi and boundary areas, perhaps a kind of Sutton's phenomenon.

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“…Early histological studies on the pigmentary CALMs of NF1 patients have mainly focused on melanocyte densities in the epidermal basal membrane. Some inconsistencies arose, when certain authors demonstrated a significant increase in melanocyte density in CALMs compared with the normally pigmented skin of the same patient (Johnson & Charneco, 1970), while others only observed this difference in a few cases (Benedict et al, 1968). Frenk & Marazzi (1984) analyzed the ratio of melanocytes and keratinocytes in normal and CALM skin of NF1 patients compared with skin of healthy individuals.…”

Section: Pigmentary Cutaneous Defects In Nf1mentioning

confidence: 99%

Pigment cell‐related manifestations in neurofibromatosis type 1: an overview

Schepper

Boucneau

Lambert

et al. 2005

Pigment Cell Research

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SummaryNeurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, affecting approximately 1 in 3500 individuals. The most commonly seen tumors in NF1 patients are the (sub)cutaneous neurofibromas. However, individuals with NF1 typically present in childhood with welldefined pigmentary defects, including café -au-lait macules (CALMs), intertriginous freckling and iris Lisch nodules. NF1 is considered a neurocristopathy, primarily affecting tissues derived from the neural crest. Since the pigment producing melanocyte originates in the neural crest, the presence of (hyper)pigmentary lesions in the NF1 phenotype because of changes in melanocyte cell growth and differentiation is to be expected. We want to discuss the pigmentary cutaneous manifestations of NF1 represented by CALMs and intertriginous freckles and the pigmentary non-cutaneous manifestations represented by iris Lisch nodules. Several hypotheses have been suggested in explaining the poorly understood etiopathogenesis of CALMs. Whether other pigmentary manifestations might share similar etiopathogenic mechanisms remains obscure. Additional attention will be drawn to a readily seen phenomenon in NF1: hyperpigmentation overlying (plexiform) neurofibromas, which could suggest common etiopathogenetic-environmental cues or mechanisms underlying CALMs and neurofibromas. Finally, we want to address the relationship between malignant melanoma and NF1.

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Cafe au lait spot in neurofibromatosis and in normal individuals

Cited by 18 publications

References 0 publications

Giant melanosomes in the B‐K mole syndrome

Giant melanosomes in the B‐K mole syndrome

The Phenomenon of Halo‐like Disappearance of the Mongolian Spot on Lesions Combined With Café Au Lait Spot or Acquired Pigmented Nevus

Pigment cell‐related manifestations in neurofibromatosis type 1: an overview

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