Aberrant Mongolian Spots Research Articles

A Baby with Café-au-lait Macules and Aberrant Mongolian Spot: Report of Phakomatosis Pigmentopigmentaria

Abstract Phacomatosis pigmentovascularis (PPV) is a term used to describe the association of vascular nevi with different pigmentary nevi. There are a very few case reports describing the association of two pigmented nevi or pigmented anomalies of nevoid character. The pathogenetic mechanism of such association is hypothesized to be twin spotting. Wolf at al has coined the term phakomatosis pigmentopigmentaria for describing the association different pigmenatry nevi or nevoid disorders. We report a rare case of baby born with co-localized segmental CALMs with aberrant Mongolian spots on the trunk. Our case can be considered as an example of this term phakomatosis pigmentopigmentaria.

Dermal Melanocytic Disorders

Dermal melanocytic disorders present as bluish pigmentation on the skin. Several entities including Mongolian spot, aberrant Mongolian spot, nevus of Ota, and nevus of Ito have been reported. It is often difficult to distinguish between the different entities from their overlapping features. Although they share similar etiologies and histologic findings, their co-morbidities and prognosis differ. In this paper, we report four cases of dermal melanocytic disorders of which we were not able to make a clear-cut diagnosis. Also, we briefly review the dermal melanocytic disorders.

Atypical Mongolian Spots in an Infant

Background: Atypical Mongolian spots are lesions that are aberrant in location (over the abdomen, back, legs, shoulders, or arms), extensive in distribution, persist beyond early infancy, and/or progressively increase in number. These are frequently associated with lysosomal storage disorders or neurocristopathies. Clinical Description: A 4-month-old girl presented with a common cold. Extensive aberrant Mongolian spots over the back, buttocks, lower limbs, and new onset grayish-blue macular spots over the abdomen prompted us to do a detailed evaluation to look for any underlying pathology. Other salient clinical findings included coarse facies, hepatomegaly, absence of significant developmental delay, bilateral macular cherry red spots, and ovoid-shaped vertebral bodies. The clinical phenotype was that of a lysosomal storage disorder possibly GM1 gangliosidosis. This was confirmed by deficient levels of ß-galactosidase. Management: The parents underwent genetic counseling. The infant was enrolled in an early intervention program. By the age of 6 months, the infant had not acquired any new developmental skills and new Mongolian spots did not develop. Subsequently, the family was lost to follow-up. Conclusion: Infants with aberrant Mongolian spots need to undergo an in-depth evaluation to identify underlying systemic disorders, even if they are asymptomatic. Diagnosis helps in providing supportive care to the child, specific therapy (if available) and the option of prenatal diagnosis in subsequent pregnancies.

Congenital triangular alopecia associated with phakomatosis pigmentovascularis type ii along with Klippel Trenaunay syndrome

Phakomatosis pigmentovascularis (PPV) is characterized by the association of a vascular nevus with a pigmentary nevus and is divided into five subtypes. PPV type II or Happle's phakomatosis cesioflammea is the most common subtype comprising of nevus flammeus along with pigmentary nevus in the form of aberrant Mongolian spots, nevus of Ota or less frequently nevus of Ito. It is estimated that around 50% of patients with PPV have systemic involvement, most frequently involving the central nervous system and eye. Other associated features include vascular abnormalities such as Sturge-Weber syndrome, and klippel trenaunay syndrome (KTS), and cutaneous lesions such as nevus anemicus (most common), cafe’-au-lait macules, generalized vitiligo and congenital triangular alopecia (CTA). There are only four reports of PPV associated with CTA in literature, and only a single previous report with associated KTS and this association has not been reported previously from India. We describe a case of a 30-year-old male having phakomatosis pigmentovascularis type II along with klippel trenaunay syndrome and associated with congenital triangular alopecia.

Beneficial Effect of Early Treatment of Aberrant Mongolian Spots with 1,064-nm Q-switched Neodymium-Doped Yttrium-Aluminum -Garnet Laser

Beneficial Effect of Early Treatment of Aberrant Mongolian Spots with 1,064-nm Q-switched Neodymium-Doped Yttrium-Aluminum -Garnet Laser

Phakomatosis pigmentovascularis: Birthmarks which might not be so benign

Introduction: Mongolian blue spot (Dermal melanocytosis) is a common birth mark. We describe the case of an infant with extensive cutaneous lesions who presented with apnoea. Case: This baby was born following an uncomplicated pregnancy to unrelated Asian parents in good condition. She had extensive vascular malformation and dermal melanosis on all limbs and abdomen. She had macroglossia and hemihypertrophy of left upper limb. A clinical diagnosis of Phakomatosis pigmentovascularis was made. At two months of age, she presented with apnoea needing intubation and ventilation. She was noted to have subglottic stenosis. Her tone was increased and she had hyperreflexia. Her intra ocular pressures were elevated. MRI of brain showed a global reduction in brain volume with extra axial dilatation of the ventricles. The left hemisphere was smaller and more atrophic. There were extensive abnormal tortuous veins over the surface of the entire brain and extensive ischaemia in both cerebral hemispheres. Following discussions with the family, she was extubated with a view for palliation. She passed away one week after discharge. Discussion: Phakomatosis pigmentovascularis (PPV) is a rare disorder characterised by combination of dermal melanocytic lesions and vascular malformations. It is classified based on cutaneous phenotypes. 50% of cases have systemic involvement involving the eye, brain, overgrowth of soft tissue and melanoma. PPV without systemic complications is benign and requires no treatment. Pathogenesis is not fully established. It has been proposed that it is associated with post zygotic mutations in genes encoding Gα subunits of heterotrimeric G proteins like GNAQ or GNA11. Early death and subglottic stenosis like our case has not been described. Genetic test result is awaited. Conclusion: Extensive or aberrant Mongolian blue spots present along with naevus flammeus should alert the clinician of the possibility of this rare condition with potentially significant systemic complications.

Aberrant mongolian spots as a clue to early diagnosis of Hunter syndrome

Aberrant mongolian spots as a clue to early diagnosis of Hunter syndrome

Phakomatosis pigmentovascularis with lower limb vascular abnormalities in a young Kashmiri male child-Report of a first child from Kashmir Valley (India) and review of literature

Phakomatosis is a developmental abnormality simultaneously involving eyes, central nervous system, and skin. Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder which is characterised by a combination of capillary malformations and pigmented anomalies. It arises sporadically. PPV was first described by Ota et al., in 1947. There is no sex predilection, but Japanese have been found to be affected more. There are four main types of PPV. Recently a fifth type with cutis marmorata and aberrant Mongolian blue spot has also been added to the classification. Here we report a case of PPV with Struge – Weber syndrome and Klippel Trenaunay syndrome in a young Kashmiri male child, which has been rarely reported in the literature.

Phacomatosis pigmentovascularis type IIa - case report

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

Phacomatosis pigmento-pigmentaria: the state of art

The term phacomatosis is used to indicate two or more different types of genetically determined cutaneous lesions are contemporarily present, such as phacomatosis pigmentovascularis or phacomatosis pigmentokeratotica. The first observation of a newborn presenting with segmental cafe au lait macules combined with an aberrant Mongolian spot, led some authors to hypothesize that this singular association was not a coincidence, but the result of twin-spotting phenomenon. In the analogy to other similarly named entities, they coined the term ‘phacomatosis pigmento-pigmentalis’.

Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports

IntroductionPhacomatosis pigmentovascularis is a rare congenital condition characterized by vascular malformation associated with extensive pigmented nevi. Even though it forms a large, prominent skin lesion, therapy for phacomatosis pigmentovascularis is rarely discussed. To the best of our knowledge, this is the first report of phacomatosis pigmentovascularis type II treated with combined laser therapy using Q-switched alexandrite and long-pulsed dye lasers.Case presentationsIn the first of two cases reported here, a 2-week-old Japanese baby girl was given a diagnosis of phacomatosis pigmentovascularis type II and Klippel–Trénaunay syndrome because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant Mongolian spots over her trunk and limbs. After five laser therapy sessions under general anesthesia, her aberrant Mongolian spots and port-wine stains have improved. But interestingly, the cutis marmorata telangiectatica congenita on the patient's back has improved without laser therapy.In the second case, a 4-month-old Japanese baby boy was referred to us because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant Mongolian spots over his face, trunk and limbs. Phacomatosis pigmentovascularis type II was diagnosed and laser therapy was started. After three laser therapy sessions under general anesthesia, the aberrant Mongolian spots and port-wine stains have improved. The cutis marmorata telangiectatica congenita on the baby's back, buttocks, and arms has faded somewhat without laser therapy.ConclusionsCombined laser therapy improved the phacomatosis pigmentovascularis skin lesions, but was not effective for the cutis marmorata telangiectatica congenita with hemiatrophy. Cutis marmorata telangiectatica congenita without atrophy can be expected to improve on its own. Our results will assist physicians considering how best to treat patients with phacomatosis pigmentovascularis.

Mongolian spots

Mongolian spots (MS) are birthmarks that are present at birth and their most common location is sacrococcygeal or lumbar area. Lesions may be single or multiple and usually involve < 5% total body surface area. They are macular and round, oval or irregular in shape. The color varies from blue to greenish, gray, black or a combination of any of the above. The size varies from few to more than 20 centimetres. Pigmentation is most intense at the age of one year and gradually fades thereafter. It is rarely seen after the age of 6 years. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although regarded as benign, recent data suggest that MS may be associated with inborn errors of metabolism and neurocristopathies. Mongolian spots usually resolve by early childhood and hence no treatment is generally needed if they are located in the sacral area. However, sometimes it may be required for extrasacral lesions for cosmesis.

Mongolian spots: How important are they?

Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background. Although these lesions resolve by one to two years of age, widespread, extrasacral and dark colored MS sometimes persist into adulthood. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler's disease), followed by mucopolysaccharidosis type II (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. They have also been seen to co-exist with various vascular or other pigmented birthmarks like café-au-lait macules. Co-existing Mongolian spots and vascular birthmarks like nevus flammeus, nevus anemicus or nevus spilus is termed as phakomatosis pigmentovascularis. This review focuses on the important associations of Mongolian spots and stresses upon the importance of screening babies with extensive MS.

A case of hypothyroidism with excessive aberrant mongolian spots

Association of hypothyroidism with excessive ectopic/aberrant mongloian spots is not reported in the literature till date. We herewith report, a 1-year-old male child who presented with clinical features of hypothyroidism with excessive ectopic/aberrant monglolian spots. Child is evaluated for hypothyroidism and found to have abnormal thyroid profile. Bone-age was less than chronological age. Cardiac evaluation revealed mild pericardial effusion. Child was started on thyroid hormone replacement therapy and advised follow-up.

Is Spontaneous Disappearance of Nevus Depigmentosus Possible?

Dear Editor: Nevus depigmentosus (ND) is characterized by a congenital hypopigmented macule or patch. The pathophysiology of ND is poorly understood, but likely associated with a functional defect in melanosome transfer from melanocytes to keratinocytes1. ND is known to remain generally stable in size and distribution throughout life1. Herein, we describe a case of a 6-year-old boy whose ND disappeared, suggesting the possibility of spontaneous resolution of ND. A 10-month-old male was brought to our clinic because of whitish patches on his right leg that had been present since his birth. Physical examination revealed hypopigmented patches on the medial side of right thigh (Fig. 1a). A diffuse bluish patch that was suspected to be an aberrant Mongolian spot surrounded the hypopigmented areas. A 2-mm punch biopsy of the hypopigmented patches and adjacent perilesional normal skin at 1 cm from margin was performed. There were no remarkable findings on H&E staining (Fig. 2a). Fontana-Masson staining showed decreased epidermal pigmentation in the lesional skin compared to the perilesional normal skin (Fig. 2b). There was no difference in the number of NKI/beteb positive melanocytes between the lesional and perilesional normal skin (Fig. 2c). These findings were consistent with ND. The patient did not receive any treatment and was lost to follow-up until his recent revisit 6 years later. At that time, he returned with a facial mobiliform eruption, accompanied by fever and conjunctival injection, and was diagnosed with erythema infectiosum. Interestingly, during physical examination, it was noted that the previous ND and the surrounding aberrant Mongolian spot had completely disappeared (Fig. 1b). The patient's parents did not recall the time of the ND disappearance. Fig. 1 Spontaneous disappearance of hypopigmented macules and patches. (a) A 10-month-old male presented with hypopigmented macules and patches on his right thigh in linear configuration since birth. A diffuse bluish patch that was suspected to be an aberrant ... Fig. 2 Histological findings. (a) There were no remarkable findings on H&E staining. (b) Fontana-Masson staining showed decreased epidermal pigmentation in the lesional skin compared to the perilesional normal skin. (c) There was no difference in the ... Spontaneous resolution of ND has never been reported. However, it should be noted that there has been no epidemiological study regarding the fate of ND. Moreover, there have been several reports suggesting the possibility that the functional defect of the melanocytes in ND is reversible2,3. Bardazzi et al.2 described the development of lentigines within ND after narrow band ultraviolet B exposure. They suggested the possibility of partial activation of melanosome transfer, resulting in overproduction of melanin within ND. Oiso et al.3 reported a case of acquired junctional melanocytic nevus development in ND. These cases suggest that melanocytes in ND could transform from a functionally defective stage to an active stage or shift to other forms such as nevus cells. Interestingly, in our case, the ND and Mongolian spots were coexistent at the initial visit and both had disappeared at the next visit. The possible relationship between Mongolian spots and spontaneous regression of ND could be suspected. There was no confirmative diagnosis of ND. It is important to consider the other hypopigmenting conditions, such as postinflammatory hypopigmentation or hypomelanosis of Ito4. Because the lesion was present from birth and he did not have any history of inflammation on the hypopigmented lesion, postinflammatory hypopigmentation could be differed from our case. Hypomelanosis of Ito consists of hypopigmented zones or spots with irregular borders, whorls, patches, or linear streaks with various patterns of distribution5. It follows the lines of Blaschko that represent a peculiar pattern of distribution. In addition, hypomelanosis of Ito usually encounter the extracutaneous manifestation. Reviewed in aspect of distribution of lesions and extracutaneous symptoms, we thought that hypomelanosis of Ito was less likely in our case. Therefore, considering the congenital hypopigmented macules, distribution, and other clinical manifestations, the hypopigmented macules and patches were most likely ND. In conclusion, our case suggests the possibility that ND could disappear. An epidemiological study of ND with long term follow up is further needed to know if ND could disappear, as in our case, or is persistent throughout life.

Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting

The term phacomatosis pigmentovascularis (PPV) refers to the occurrence of vascular nevi with melanocytic or epidermal nevi. We report on monozygotic twins (MZTs) discordant for phacomatosis cesioflammea (PPV type II) providing evidence for the mechanism of twin spotting in the development of PPV. The affected twin had a nevus flammeus on the right arm and the right maxilla, and a pigmented area on the trunk in keeping with a persistent, aberrant Mongolian spot. The affected twin had bilateral ocular melanocytosis with abnormal scleral pigmentation, iris mamillations, increased pigmentation of the trabecular meshwork, and increased fundal pigmentation and secondary glaucoma. DNA testing confirmed monozygosity. This case of MZTs discordant for PPV supports the hypothesis that PPV results from mosaicism due to a post-zygotic mutational event and the concept of twin spotting.

Comparison of regional efficacy and complications in the treatment of aberrant Mongolian spots with the Q-switched ruby laser

Background and objective: Aberrant Mongolian spots (AMS) distal from the lumbosacral region are said to be more apt to persist than the typical sacral AMS, so the Q-switched ruby laser (QSRL) has been the treatment of choice for AMS. However, so far as we could determine, there is no statistical analysis of the treatment of AMS. This paper shows statistical comparisons of the efficacy and complications in the treatment of AMS with QSRL. Methods: Fifty-three patients (16 males and 37 females) with 57 AMS regions were treated with the QSRL from March 1999 to April 2007, and we divided the diseased areas into exposed regions that could not be concealed by clothing and non-exposed regions that could be concealed by clothing, and performed a statistical analysis. Results: The results indicated that QSRL treatment of AMS in the exposed regions showed significantly improved coloration and caused less pigmentation when compared with the non-exposed regions. Conclusion: We concluded that QSRL treatment of AMS in the exposed regions is more effective than that of AMS in the non-exposed regions.

Phacomatosis Pigmentopigmentalis: Aberrant Mongolian Spots and Segmental Café Au Lait Macules

We report a case of an otherwise healthy male newborn, with segmental café au lait spots on his left buttocks and left thigh down to the medial knee, in a nevoid pattern, and an aberrant Mongolian spot on the ipsilateral cheek of the buttocks in a checkerboard pattern. We propose the name phacomatosis pigmentopigmentalis in analogy to phacomatosis pigmentovascularis, and phacomatosis pigmentokeratotica.

Congenital Hemangioma: A Report of Evolution from Rapidly Involuting to Noninvoluting Congenital Hemangioma with Aberrant Mongolian Spots

Congenital hemangiomas are unusual vascular tumors that are fully developed at the time of delivery. We report a case of an infant with an exophytic congenital hemangioma with features of a rapidly involuting hemangioma on the arm which over 3 years decreased in volume but continued to persist with features of a noninvoluting congenital hemangioma. He also had aberrant, persistent Mongolian spots on both legs. To our knowledge, this association has not been reported to date.

Phakomatosis pigmentovascularis

A case of phakomatosis pigmentovascularis type IIa in a, short stature, 6-year old girl with nevus flammeus of the face and palate, bilateral ocular melanosis, aberrant mongolian spots and minor dysmorphic traits is reported. The patient has been considered at risk for glaucoma and ocular melanoma and an ophthalmologic follow-up including a tonometry is yearly requested. Phakomatosis Pigmentovascularis (PP) is a rare disease characterized by coexistence of capillary hemangioma and pigment abnormalities. The authors review the literature and discuss clinical features which actually allow the distinction of PP into 4 types. The opportunity of a follow-up specifically planned on the patient's phenotype is emphasized.