The color of skin: gray diseases of the skin, nails, and mucosa.

Gray diseases are a group of skin disorders characterized mainly by gray discoloration with or without involving the mucous membranes and nails. These diseases may be hereditary or acquired. Some of the better-known hereditary entities are dermal melanocytosis, incontinentia pigmenti, hypomelanosis of Ito, hemochromatosis, ochronosis, and silvery hair syndrome. Acquired diseases with gray coloring include late-stage organ failure, lichen planus pigmentosus, erythema dyschromicum perstans, and drug reactions. The discoloration is due to either increased epidermal and or dermal melanin or dermal deposition of a chromogen or a combination of both. Investigations are directed to determining the underlying medical condition and a skin biopsy is usually unnecessary. Likewise, treatment is directed mainly toward the underlying medical disease. Although bleaching (lightening) agents may diminish the discoloration, better results may be obtained from using a Q-switched laser and intense pulsed light, either alone or in combination with topical agents.

Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.

An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. This sign has been described rarely in the literature and the pathogenic mechanism is unclear.

Phakomatosis pigmentovascularis type IIb in association with external hydrocephalus.

Phakomatosis pigmentovascularis (PPV) is a rare sporadic genetic disorder characterised by co-occurrence of an extensive vascular nevus and a large pigmentary nevus with or without extracutaneous manifestations. There are four types of PPV with subtype 'a' for cutaneous involvement only and subtype 'b' for cutaneous and systemic involvement. PPV type IIa consists of nevus flammeus, Mongolian spots and sometimes nevus anemicus. Prognosis depends on associated systemic disorders. Two independent cases of PPV type IIb presented with nevus flammeus, aberrant Mongolian spots, ocular and central nervous system anomalies. Case 1 had external hydrocephalus previously unreported in PPV while case 2 had hydrocephalus exvacuo. Both patients had seizure disorder and neurodevelopmental delay. They were on long-term neurologic and ophthalmologic management while their cutaneous lesions partially regressed. PPV affects all racial and ethnic groups. The occurrence of external hydrocephalus in PPV expands the spectrum of its systemic manifestations.

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.

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.

Phacomatosis cesioflammea with unilateral lipohypoplasia.

Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin spotting. We report on a 28-year-old woman with aberrant Mongolian spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.

Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata).

A 1-month-old boy showed cutis marmorata telangiectatica congenita (CMTC) involving a block-like pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyish-blue hyperpigmentation involving the buttocks and thighs and being in part intermingled with CMTC. This association of CMTC with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V. More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis.