LAS MACULAS CAFÉ CON LECHE Y SU IMPORTANCIA. REVISIÓN.
THE CAFÉ AU-LAIT AND ITS IMPORTANCE, A REVIEW.
2.) ANEMIA DE FANCONI.
3.) SÍNDROME DE BANNAYAN- RILEY-RUVALCABA.
4.) SÍNDROME DE LENTIGINES MULTIPLES.
5.) SÍNDROME DE LEOPARD.
6.) SÍNDROME DE NOONAN.
7.) SÍNDROME DE ALBRIGHT.
8.) SÍNDROME DE McCUNE-ALBRIGHT.
9.) ATAXIA-TELANGIECTASIA.
10.) ESCLEROSIS TUBEROSA (ENFERMEDAD DE BOURNEVILLE).
11.) SÍNDROME DE SILVER-RUSELL.
12.) SÍNDROME DE WATSON.
13.) SÍNDROME DEL CARCINOMA BASO CELULAR NEVOIDE.
14.) SÍNDROME DE LEGIUS.
15.) SÍNDROME DE BLOOM.
16.) ENFERMEDAD DE GAUCHER.
17.) ESTENOSIS PULMONAR.
18.) SÍNDROME DE WESTERHOF
19.) SÍNDROME DE TURNER.
20.) ENFERMEDAD DE COWDEN.
21.) ENFERMEDAD DE HUNTER
22.) SÍNDROME DE MAFFUCCI.
23.) SÍNDROME DE CHEDIAK-HIGASHI.
24.) SÍNDROME DEL NEUROMA MUCOSA MULTIPLE.
25.) SÍNDROME DE WISKOTT-ALDRICH.
26.) SÍNDROME DE JAFFE-CAMPANACCI.
27.) NEVUS CONGÉNITO.
28.) LENTIGINOSIS AGUDIZADA.
29.) DISPLASIA ECTODERMICA ANHIDROTICA.
30.) DISPLASIA FIBROSA POLIOSTOTICA.
31.) SÍNDROME DE PROTEUS.
32.) XANTOGRANULOMA JUVENIL.
33.) PÓLIPOS DEL TRACTO GASTRO INTESTINAL.
34.) ENFERMEDAD DE DARIER (QUERATOSIS FOLICULAR).
La mas frecuente de todas esta es la NEUROFIBROMATOSIS tipo 1 (NF-1), mediante estudios científicos se ha llegado a la conclusión que: La mayoría de los pacientes con 6 o más MACULAS CAFÉ CON LECHE (CALMs) con el tiempo cumplirá los criterios de diagnóstico de NF1, por lo general a los 6 años de edad, y esta probabilidad aumenta con el aumento del número y la apariencia morfológica típica de estas.
Otro criterio diagnostico para la NEUROFIBROMATOSIS tipo 1 (NF-1) es la presencia de 6 o mas maculas CAFÉ CON LECHE(CALMs), y con tamaño 5 mm de diámetro antes de la pubertad, o mayores de 15 mm de diámetro después de la pubertad, pero otras características son necesarias para diagnosticar NF-1, entre ellas:
La importancia de esta revisión es que estas simples "MANCHAS", color marrón en los niños, de pronto son irrelevantes, y no están asociadas a ninguna enfermedad, es decir, son "LUNARES" congénitos que no traen consecuencias.
Pero te deje una "LISTA" en las que se ha asociado LAS MACULAS CAFÉ CON LECHE con varios síndromes y enfermedades, y como te lo describí, la mas común, la NEUROFIBROMATOSIS DE VON RECKLINGHAUSEN TIPO 1 (NF-1). De modo que si tu niño presenta estas maculas, debes estar vigilante.
En las 70 referencias los hechos y en el adjunto un niño de 8 años con MACULAS CAFÉ CON LECHE completamente sano.
El tratamiento de las MACULAS, hoy día se hace con diversos tipos de Láser, dando buenos resultados, EL MAS UTILIZADO en la NF1, es el láser Q-switched alejandrita (alexandrite) de 755 nm.
Saludos a todos.
Dr. José Lapenta.
1.) HISTORY:
The first to describe these "MACULES" was the French physician Henri Marie Ducrotay de Blainville in 1891, who reported these pigmented spots with that name or similar characteristics in his clinical and anatomical observations.
Later, in 1901, the German dermatologist Alfred Blaschko confirmed the previous description by the Frenchman Henri Marie of 1891, describing these spots as pigmented lesions on the skin with well-defined borders and a color reminiscent of café au lait, hence their name "CAFE AU-LAIT" MACULES. (CALMs). C=CAFE AL=AU-LAIT=WITH MILK, M=MACULES.
Since that time, they have been recognized and studied in the context of various skin and genetic diseases, especially in relation to NEUROFIBROMATOSIS type 1.
2.) CLINICAL CHARACTERISTICS:
These macules can be congenital or acquired in the first years of life. They do not disappear and may increase in size and number over time.
They are typically light brown, oval, and can appear anywhere on the body. They are completely asymptomatic.
These macules may not signify anything significant in the children who have them, but in many cases, they can be a warning sign of diseases that have been described in association with them, including:
3.) DISEASES ASSOCIATED WITH CAFE-AU-LAIT MACULES:
1.) VON RECKLINGHAUNSEN'S NEUROFIBROMATOSIS.
2.) FANCONI ANEMIA.
3.) BANNAYAN-RILEY-RUVALCABA SYNDROME.
4.) MULTIPLE LENTIGIN SYNDROME.
5.) LEOPARD SYNDROME.
6.) NOONAN SYNDROME.
7.) ALBRIGHT SYNDROME.
8.) McCUNE-ALBRIGHT SYNDROME.
9.) ATAXIA-TELANGIECTASIA.
10.) TUBEROUS SCLEROSIS (BOURNEVILLE DISEASE).
11.) SILVER-RUSELL SYNDROME.
12.) WATSON SYNDROME.
13.) NEVOIDE BASAL CELL CARCINOMA SYNDROME.
14.) LEGIUS SYNDROME.
15.) BLOOM SYNDROME.
16.) GAUCHER'S DISEASE.
17.) PULMONARY STENOSIS.
18.) WESTERHOF SYNDROME
19.) TURNER SYNDROME.
20.) COWDEN DISEASE.
21.) HUNTER'S DISEASE
22.) MAFFUCCI SYNDROME.
23.) CHEDIAK-HIGASHI SYNDROME.
24.) MULTIPLE MUCOSAL NEUROMA SYNDROME.
25.) WISKOTT-ALDRICH SYNDROME.
26.) JAFFE-CAMPANACCI SYNDROME.
27.) CONGENITAL NEVUS.
28.) AGMINATED LENTIGINOSIS.
29.) ANHYDROTIC ECTODERMAL DISYPLASIA.
30.) POLYOSTOTIC FIBROUS DYSPLASIA.
31.) PROTEUS SYNDROME.
32.) JUVENILE XANTHOGRANULOMA.
33.) GASTROINTESTINAL TRACT POLYPOSIS.
34.) DARIER'S DISEASE (KERATOSIS FOLLICULARIS)).
The most frequent of all this is NEUROFIBROMATOSIS type 1 (NF-1), through scientific studies it has been concluded that: Most patients with 6 or more CAFE AU-LAIT MACULES (CALMs) will eventually meet the criteria of NF1, usually at 6 years of age, and this probability increases with increasing numbers and the typical morphological appearance of these.
Another diagnostic criterion for neurofibromatosis type 1 (NF-1) is the presence of 6 or more café-au-lait macules (CALMs), 5 mm in diameter before puberty, or larger than 15 mm in diameter after puberty, but other characteristics are necessary to diagnose NF-1, including:
A. - Six (6) or more CAFE AU-LAIT SPOTS, CONGNITAL or ACQUIRED within the first two (2) years of life, measuring between 5 mm and 1.5 cm.
C. - Presence of CUTANEOUS NEUROFIBROMAS: a minimum of 2 lesions, or at least one plexiform neurofibroma.
D. - AXILLARY EPHELIDES (known as CROWE'S SIGN): these are minimal hyperpigmented macular lesions (FRECKLES), with or without a café-au-lait macule typical of NF1, located in the armpits and inguinal region.
First described by the American physician Frank W. Crowe in 1956.
E. - BONE ANOMALIES: sphenoid dysplasia or scoliosis.
F. - OPTIC NERVE GLIOMAS: This is a tumor that connects the optic nerve to the brain.
G. - FAMILY HISTORY of NEUROFIBROMATOSIS in parents or siblings, in the first-degree relatives.
It is an autosomal dominant disease: each child of an affected parent has a 50% chance of inheriting the disease; the other 50% occurs due to spontaneous (de novo) mutations.
The affected gene is located on chromosome 17 and is called the NF1 gene. This gene encodes a protein called NEUROFIBROMIN, which, when affected, triggers the symptoms of the disease.
NOTE: There are other variants of NEUROFIBROMATOSIS. besides the classic NF1, described previously. These are:
1.) NEUROFIBROMATOSIS type 2 (NF2): This represents 3% of cases. It is primarily characterized by the development of bilateral vestibular schwannomas, meningiomas, and ependymomas. The responsible gene is located on chromosome 22 and is called NF2 (22q12).
2.) NEUROFIBROMATOSIS type 3 or Schwannomatosis (SWM): This represents less than 1% of cases. It is also characterized by the presence of non-vestibular schwannomas. Unlike NF2, it does not present the symptoms of NF1; the predominant symptom is chronic pain. The genes involved are SMARCB1 and LZTR1, also located on chromosome 22.
- SEGMENTAL NEUROFIBROMATOSIS: This is a variant of NF1 located in a "segment" or part of the body.
5.) IMPORTANCE:
The importance of this review is that these simple BROWN"SPOTS" in children may seem insignificant and not associated with any disease; that is, they are congenital "moles" that have no consequences.
However, I've included a list of conditions in which CAFE-AU-LAIT spots have been associated with various syndromes and diseases, and as I described, the most common is VON RECKLINGHAUSEN NEUROFIBROMATOSIS TYPE 1 (NF1). Therefore, if your child has these spots, you should be vigilant.
The 70 references detail the facts, and the attached image shows an 8-year-old boy with CAFE-AU-LAIT SPOTS who is completely healthy.
Today, his MACULES are treated with various types of lasers, yielding good results. The most commonly used laser for NF1, is the 755 nm Q-switched alexandrite laser.
Greetings to all.
Dr. Jose Lapenta.
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REFERENCIAS BIBLIOGRÁFICAS /
BIBLIOGRAPHICAL REFERENCES
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1.) Multiple lentigines syndrome (LEOPARD syndrome or progressive
cardiomyopathic lentiginosis).
2.) Multiple facial angiofibromas and collagenomas in patients with
multiple endocrine neoplasia type 1.
3.) [Neurofibromatosis type 1: a survey of 195 patients]
4.) Darier's disease associated with multiple cafe-au-lait macules.
5.) Pigmentary anomalies in the multiple lentigines syndrome: Is it
distinct from
LEOPARD syndrome?
6.) Long-term follow-up in treatment of solar lentigo and cafe-au-lait
macules with Q-switched ruby laser.
7.) Skin abnormalities in neurofibromatosis 2.
8.) Segmental neurofibromatosis: case reports and review.
9.) Recurrent ovarian cyst and mutation of the Gs alpha gene in ovarian
cyst fluid cells: what is the link with McCune-Albright syndrome?
10.) Familial multiple cafe au lait spots.
11.) Diagnostic outcome in children with multiple cafe au lait spots.
12.) Cutaneous nerves in cafe au lait spots with white halos in
infants with neurofibromatosis. An electron microscopic study.
13.) McCune-Albright syndrome with multiple bilateral cafe au lait
spots.
14.) Radiosensitivity of fibroblasts obtained from a cafe-au-lait spot and
normal-appearing skin of a patient with neurofibromatosis (NF-6).
15.) A computed image analyzing system for quantitation of
melanocyte morphology in cafe-au-lait macules of neurofibromatosis.
16.) Prevalence of congenital-nevus-like nevi, nevi spili, and cafe au
lait spots.
17.) Congenital-nevus-like nevi, nevi spili, and cafe-au-lait spots in
patients with malignant melanoma.
18.) Cafe-au-lait spots in schoolchildren.
19.) Cafe au lait spots in ataxia-telangiectasia (A.T.).
20.) "Sunburn" freckles, cafe-au-lait macules, and other pigmented lesions
of schoolchildren: the Vancouver Mole Study.
21.) Melanotic macules following Blaschko's lines in McCune-Albright
syndrome.
22.) Treatment of benign pigmented epidermal lesions by Q-switched ruby
laser.
23.) 510-nm pigmented lesion dye laser. Its characteristics and clinical
uses.
24.) McCune-Albright syndrome: how many endocrinopathies can one patient
have?
25.) Aspects in neurofibromatosis from the viewpoint of dermatology.
26.) [Unilateral lentiginosis--a segmental neurofibromatosis without
neurofibromas]
27.) Non-von Recklinghausen's
neurofibromatosis presenting as hemifacial neurofibromas and contralateral
cafe au lait spots.
28.) The prevalence of cafe-au-lait patches in tuberous sclerosis.
29.) Common and uncommon cutaneous findings in patients with
ataxia-telangiectasia.
30.) [Diagnostic value of cafe-au-lait spots (author's transl)]
31.) The eastern Australian childhood nevus study: prevalence of atypical
nevi, congenital nevus-like nevi, and other pigmented lesions.
32.) [Von Recklinghausen neurofibromatosis and dermal melanocytic nevi]
33.) Fanconi anemia.
34.) Treatment of epidermal pigmented lesions with the frequency-doubled
Q-switched Nd:YAG laser. A controlled, single-impact, dose-response,
multicenter trial.
35.) Agminated lentiginosis: case report and review of the literature.
36.) Cutaneous melanoma in a patient with neurofibromatosis: a case report
and review of the literature.
37.) [Type 1 neurofibromatosis in Tunisia: 66 cases]
38.) Bilateral pheochromocytoma-ganglioneuroma of the adrenal in type 1
neurofibromatosis.
39.) Laser treatment of benign pigmented epidermal lesions using a 300
nsecond pulse and 510 nm wavelength.
40.) Segmental neurofibromatosis with only macular lesions.
41.) Preliminary experience with a flashlamp-pulsed tunable dye laser for
treatment of benign pigmented lesions.
42.) Unusual cutaneous manifestations of anhidrotic ectodermal
dysplasia--a case report.
43.) Polyostotic fibrous dysplasia associated with extensive linear
epidermal naevi.
44.) The diagnosis of neurofibromatosis-1 in the child under the age of 6
years.
45.) Effect of wavelength on cutaneous pigment using pulsed
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46.) Pigmentary disorders in oriental skin.
47.) [Cutaneous signs of Noonan's syndrome. Apropos of a case with
ulerythema ophyogenes, disseminated pilar and sudoral keratosis and
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48.) Neurofibromatosis and Albright's syndrome.
49.) The Proteus syndrome: the Elephant Man diagnosed.
50.) Juvenile xanthogranuloma: an analysis of 45 cases by clinical
follow-up, light- and electron microscopy.
51.) [Several cases of non-phlebologic pigmentation of the lower
extremities]
52.) Multiple agminated spindle cell nevi: unique clinical presentation
and review.
53.) The invisible dermatoses.
54.) Principles of genetics as related to the chromosome disorders and
congenital malformations with reference to prenatal diagnosis and genetic
counseling.
55.) Juvenile chronic granulocytic leukemia: emphasis on cutaneous
manifestations and underlying neurofibromatosis.
56.) The removal of cutaneous pigmented lesions with the Q-switched ruby
laser and the Q-switched neodymium: yttrium-aluminum-garnet laser. A
comparative study.
57.) [Smooth muscle hamartoma: anatomoclinical characteristics and
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58.) Multiple café au lait spots in familial patients with MAP2K2
mutation.
59.) A severe form of Noonan syndrome and autosomal dominant café-au-lait
spots - evidence for different genetic origins.
60.) The diagnostic and clinical significance of café-au-lait macules.
61.) A girl with cutaneous hyperpigmentation, café au lait spots and ring
chromosome 15 without significant deletion.
62.) Diagnostic outcome in children with multiple café au lait spots.
63.) Café au lait macules and juvénile polyps.
64.) Café-au-lait spots in neurofibromatosis type 1 and in healthy control
individuals: hyperpigmentation of a different kind?
65.) Cafe au lait has hue of its own.
66.) Predictive value of café au lait macules at initial consultation in
the diagnosis of neurofibromatosis type 1.
67.) Nevoid basal cell carcinoma syndrome presenting with neck pits and
café au lait patches.
68.) Divided café-au-lait macule of the mouth.
69.) Molecular screening strategies for NF1-like syndromes with
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70.) The first Slovak Legius syndrome patient carrying the SPRED1 gene
mutation.
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