Café au lait spots: When and how to pursue their genetic origins.

Café au lait spots are common birthmarks seen sporadically and in association with several genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by other physicians and by parents. In some cases, it is challenging to know when and how to pursue further evaluation. Diagnostic challenges may come in the form of the appearance of the individual lesions, areas and patterns of cutaneous involvement, and associated features (or lack thereof). In this review, we aim to clarify when and how to evaluate the child with multiple or patterned café au lait spots and to explain some emerging concepts in our understanding of the genetics of these lesions.

Liquen aureus: ¿un caso congénito? / Lichen Aureus: A Congenital Case?

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Association of Piebaldism with Café-au-Lait Macules.

A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a). There was no history of consanguinity, and the family history was negative. The infant was otherwise normal for his age. A diagnosis of "piebaldism with CALMs" was made, and his parents were counseled about the disease and its progression, and possible treatment options as the child grew. They were also informed about a currently unquantifiable risk of future development of Legius syndrome or neurofibromatosis type 1 (NF1), and were counseled for regular follow-up.

[Congenital "kissing" lesions: Nevus or "café au lait" spot?] / Lésions congénitales périorbitaires en miroir dites « kissing ¼ : nævus ou tache café au lait ?

INTRODUCTION: "Café au lait" spots (CLS) are pigmented skin lesions principally located at the trunk and the limbs. Histologically, CLSs consist in an excessive pigmentation of the epidermis, with no risk of malignant transformation. The "kissing" nevus is a rare pigmented congenital nevus affecting both lower and upper eyelids in a mirror layout. As other nevi, it presents a theoretical risk of malignant transformation. These two pigmented lesions are responsible for aesthetic discomfort when affecting the face. OBSERVATION: Three patients presenting with a congenital pigmented lesion affecting the two eyelids in a mirror layout are presented. In two cases, the lesions, initially considered as "kissing" nevi, were classified as CLSs. The diagnosis of CLS was made on a biopsy in one patient and after surgery in the other one. DISCUSSION: Pigmented mirror layout lesions, called "kissing" lesions, are exclusively described for the nevi. We describe two cases of CLSs affecting the eyelids in a mirror layout. Difficulties in diagnostic are exposed and the possible treatments are discussed.

[McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back]. / Syndrome de McCune-Albright révélé par des taches café-au-lait blaschko-linéaires du dos.

BACKGROUND: McCune-Albright syndrome is a rare sporadic disease defined by the triad of café-au-lait spots, fibrous dysplasia of bone and endocrine disorder. Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. We report a case of McCune-Albright syndrome diagnosed solely on the basis of the cutaneous signs. PATIENTS AND METHODS: A four-year-old girl was seen in our clinic due to the presence of congenital café-au-lait spots on her back. These macules were irregular, with jagged borders, and were disposed in a broad band on the left shoulder and in the lumbar region, in a Blaschko-linear pattern. McCune-Albright syndrome was immediately suspected, despite the absence of other signs of the disease. Genetic assessment carried out a year and a half later confirmed the diagnosis, with arginine substitution at position 201 of Gs alpha protein. The child was still asymptomatic. Regular radiographic and endocrine assessments remained normal for three years until the sudden appearance at the age of seven years of precocious puberty and radiographic evidence of fibrous dysplasia of the right hand. DISCUSSION: Café-au-lait spots are very common in the general population. An underlying genetic disorder should only be sought when such spots are multiple. However, in the case of McCune-Albright syndrome, it is the irregular borders and the Blaschko-linear arrangement of the spots in broad irregular bands that are pathognomonic, reflecting as they do the genetic mosaicism characteristic of this disease.

Microtia Combined With Split Sole of Feet, Deformed Middle Fingers and Café -au-lait Spots on the Trunk: A New Association.

Microtia is a spectrum of congenital deformities. Approximately, half of the patients are associated with hemifacial microtia. The birth rate of microtia ranges from 2 per 10,000 to 17.4 per 10,000. Microtia and limb deformities sometimes occurred simultaneously as described in the literature. In this report, the patient was found to be with unilateral microtia combined with bilateral split sole of feet, deformed middle fingers on both hands, and café-au-lait spots on the trunk. Despite a thorough literature search, the authors could not achieve a satisfactory diagnosis for the current case with respect to the type of anomalies seen in the case.

Birthmarks--identification and management.

BACKGROUND: Birthmarks are common in newborns, and their presence can cause much anxiety in new parents. OBJECTIVE: This article provides an update on common birthmarks and identifies those complex subtypes that may indicate potentially important associations or outcomes. DISCUSSION: Birthmarks encompass a range of lesions presenting at birth or soon after. They can be divided into vascular, epidermal, pigmented and other subtypes. This article focuses on common birthmarks to help identify patients requiring specific intervention and explores recent developments in management. A minority of higher risk birthmarks have complications or systemic associations that need identification and further management. Birthmarks are common, and in most cases parents can be reassured they are only of cosmetic significance and that the appearance will improve over time.

Intraoral findings and other developmental conditions in Mexican neonates.

PURPOSE: The objective of this study was to investigate the prevalence of intraoral findings and other minor developmental malformations in newborns from San Luis Potosi, Mexico. METHODS: Study subjects were neonates born in San Luis Potosi Morones Prieto Hospital between September 1989 and February 1990. All subjects are examined at this hospital within 20 hours of birth. Premature babies or those requiring intensive care were excluded. Examinations are performed by a team consisting of a geneticist, an oral pathologist, 2 dentists, and an oral surgeon using mirrors, tongue blades, and a flashlight. RESULTS: The team examined 2,182 neonates and found a frequency of 99% for congenital oral cysts, 2% for natal teeth, 11% for ankyloglossia, 8% for commissural lip pits, and 54% for congenital vascular malformations. The male/female ratios for ankyloglossia and natal teeth were 1.5:1 and 1:2.3, respectively. CONCLUSIONS: Babies born at the same hospital demonstrated a high rate of oral cysts, natal teeth, ankyloglossia, and commissural lip pits.

Hypermelanoses of the newborn and of the infant.

This article discusses hypermelanoses present at birth or appearing in the first months of life. They may be transient or permanent, localized - as in café-au-lait spots - or segmental, or more rarely, complex or generalized. In most pigmentary diseases, physical examination, including Wood's lamp examination and a detailed history, is usually sufficient. Time of onset, distribution pattern, and associated clinical and sometimes histopathologic findings are helpful in differentiating these disorders. Recently, molecular diagnosis has become available for some rare entities, such as hereditary symmetrical dyschromatoses, but the bulk of nevoid lesions are not understood at the molecular level.

Birthmarks and transient skin lesions in newborns and their relationship to maternal factors: a preliminary report from northern Italy.

BACKGROUND: A total of 620 healthy term neonates, randomly selected among babies born at the San Paolo Hospital in Milan (Italy), were examined to study the relationship between birthmarks and transient cutaneous lesions in newborns of different ethnic groups. METHODS: Information on sociodemographic factors and on physiopathological variables of the pregnancy was collected. Multiple logistic analyses were performed to assess associations between diagnosed skin lesions and various factors. Odds ratios (OR) as a measure of association and the corresponding 95% confidence intervals were estimated. RESULTS: A positive association was found between reduced hypoderm and pregnancy illness (OR = 2.78), hypertrophy genitalia and use of drugs (OR = 1.86) and illnesses in pregnancy (OR = 1.61). Hyperpigmentation in the genital area and Mongolian spot showed significant positive association with geographical area of origin, being systematically more frequent in non-European neonates, while for melanocytic congenital nevi a positive association was observed only for Asiatic newborns (OR = 4.67); salmon patch on the nape showed a significant OR of 1.81 among mothers aged > or = 35. CONCLUSIONS: Significant associations between some sociodemographic factors and cutaneous lesions of the newborn and anamnestic data related to the pregnancy were found. Dermatologic conditions are common in the newborns and may justify dermatologic examination.

Café au lait macules and juvénile polyps.

Several hereditary and nonhereditary gastrointestinal tract polyposis syndromes exhibit extra-intestinal manifestations, including cutaneous findings. However, a lack of information exists regarding cutaneous features of juvenile polyposis. Our objective was to document the prevalence of cutaneous hyperpigmented lesions in children with juvenile polyposis coli or juvenile polyposis coli and their first degree relatives.Children seen in the gastroenterology practice at The Children's Hospital in Denver, Colorado with polyps (juvenile polyposis coli, sporadic juvenile polyps, and familial adenomatous polyposis coli) and their first degree relatives were invited to participate in the study. A comprehensive skin examination was performed on those who consented to participate. We found that 8 of 14 patients (eight with juvenile polyposis coli, four with juvenile polyposis, and two with familial adenomatous polyposis coli) had at least one café-au-lait macule, compared with three of 27 relatives (p=0.003).The prevalence of at least one café-au-lait macule in our patients (8/14 or 57.1%, CI: 28.9­82.3%) was significantly higher than the general population prevalence of 28.5% (p=0.023). However, if the two patients with familial adenomatous polyposis coli were excluded, the comparison with the general population prevalence did not reach statistical significance (p=0.095). The prevalence of multiple cafe´-au-lait macules in our patients (4/14 or 28.6%; CI:8.4­58.1%) was significantly higher than the general population prevalence of 5.2% (p » 0.005). A notable finding was the presence of multiple café -au-lait macules in 4 of 12 juvenile polyposis coli/juvenile polyposis patients.Two patients with juvenile polyposis coli also had lentigines. In this selected case series, we observed single or multiple café-au-lait macules in a high proportion of children with the three types of polyps. Further studies are needed to assess a possible common pathway for hamartomatous polypsand café-au-lait macules.

Divided café-au-lait macule of the mouth.

We describe a 4-year-old, otherwise healthy boy with a congenital history of a perioral and labial segmental café-au-lait macule, who was noted to have unilateral localized gingival hyperpigmentation that aligned with the café-au-lait macule. This case is highly illustrative of the embryologic timing of the genetic event locally, which leads to café-au-lait type hyperpigmentation. Because the facial features and the ectoderm overlying the facial muscles develop around the third to fourth week of gestation, the distribution of this café-au-lait macule suggests development at the same time.

Large solitary café au lait spots: a report of 5 cases and review of the literature.

The presence of multiple café au lait spots (CALSs) has been well described and associated with several neurocutaneous and genetic syndromes including, most commonly, neurofibromatosis. However, scant literature exists regarding the clinical significance of the large solitary CALS. We describe 5 patients with congenital large solitary CALSs without associated abnormalities. Our cases and review of the literature suggest that large solitary CALSs are uncommon benign lesions that most likely are not associated with any neurocutaneous syndromes or developmental anomalies.

Neurofibromatosis segmentaria. A propósito de un caso y revisión bibliográfica / Segmental neurofibromatosis. A case report and bibliographic review

La neurofibromatosis segmentaria es una rara variedad de facomatosis neurocristopática de clínica variable y buen pronóstico, caracterizada por manchas café con leche y/o neurofibromas de distribución unilateral y metamérica, sin afectación visceral. Corresponde al tipo V de las neurofibromatosis de la clasificación de Riccardi, predomina en mujeres y se localiza con frecuencia en la región toracoabdominal, sin sobrepasar la línea media. No es frecuente encontrar nódulos de Lisch ni efélides axilares. La causa es una mutación somática poszigota del gen de la neurofibromatosis tipo I en etapas precoces del desarrollo embrionario de la cresta neural, con mosaicismo somático y, en ocasiones, gonadal, que explicaría los casos hereditarios. Describimos un caso típico de neurofibromatosis segmentaria en una niña de 14 años de edad que consultó por múltiples máculas café con leche desde el segundo mes del nacimiento, sin evidencia de otros hallazgos cutáneos patológicos (AU)

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The incidence of birthmarks in Israeli neonates.

BACKGROUND: Several studies have documented cutaneous findings in neonates of various racial groups. Our purpose was to determine the frequency of birthmarks in Israeli neonates of Jewish and Arabic origin. METHODS: A cohort of 1672 newborn infants under 96 hours of age were examined for the presence of birthmarks. Of these 841 (50.3%) were Jewish and 831 (49.7%) were Arab. The Jewish group was further subdivided into various ethnic groups according to parental ancestry. RESULTS: Melanocytic brown lesions (Mongolian spots, congenital nevi, and café-au-lait spots), were more common in Arab infants. The vast majority of Jewish infants with Mongolian spots were of Asian or African ancestry. On the other hand, congenital melanocytic nevi were found only in Jewish infants of European ancestry. Vascular lesions (salmon patch and port-wine stain) in Arab neonates exhibited a female preponderance. CONCLUSIONS: Our data suggest that the prevalence of birthmarks in Israeli neonates is similar to the prevalence reported by others in white neonates.