Congenital Self-Healing Reticulohistiocytosis Clinical Presentation

Updated: Jun 26, 2018
  • Author: David F Butler, MD; Chief Editor: Dirk M Elston, MD  more...
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Skin lesions typically are present at birth or develop during the neonatal period. Papules are most often asymptomatic. Most commonly, a history of a normal delivery following a normal-term pregnancy is reported. In one report, urticaria developed a few days after the development of the papules. [19]


Physical Examination

The development of multiple reddish-brown papules is the most common presentation of congenital self-healing reticulohistiocytosis (see the images below). [20] Solitary lesions are reported in 25% of the cases. [21, 22] Papules tend to be located on the head, neck, and distal extremities. The papules may become crusted. [23]

Urticarial patches on the leg of a 3-month-old inf Urticarial patches on the leg of a 3-month-old infant and several reddish-brown papules on the foot typical of congenital self-healing reticulohistiocytosis.
Reddish-brown papules of congenital self-healing r Reddish-brown papules of congenital self-healing reticulohistiocytosis on the foot of a 3-month-old infant.

Other manifestations may include vesicles, pustules, plaques, scaling patches, blue nodular skin infiltrates, hemorrhagic bullae, and hemangiomalike lesions. [24, 25, 26, 27] Two cases that presented with extensive erosive superficial lesions, including nasal and oral mucosa erosions, have been reported. [28] One case of intense residual pigmentation (due to hemosiderin deposition) at the sites of resolving skin lesions has been reported. [29]

A two-month-old infant was reported to manifest multiple hypopigmented flat-topped papules that histologically showed features of congenital self-healing reticulohistiocytosis and no internal involvement. [30]

Newborns have been described as "blueberry muffin babies". [31]

Eye involvement that resolved concurrently with the skin lesions has been reported. [32] Another newborn was described as having acute glaucoma secondary to a pseudo-inflammatory membrane with typical histocytic cells occluding the iridocorneal angle. [33]

Additionally, one infant with congenital self-healing reticulohistiocytosis demonstrated multiple lung cysts that completely resolved within 1 year. [34] Another infant was described as having a lung lesion that resolved with the skin lesions. [35]

Finally, although hepatomegaly has been noted in some infants, the clinical significance of this is uncertain.

The lesions of congenital self-healing reticulohistiocytosis have been reported to urticate after physical manipulation (pseudo-Darier sign); this occurs because of the increased numbers of mast cells in lesional skin along with the Langerhans cells. [19]

Particular attention should be given during examination to look for signs of extracutaneous involvement, such as the following:

  • Lymphadenopathy

  • Hepatosplenomegaly

  • Soft tissue mass

  • Neurologic deficits

  • Pathologic fractures

  • Pulmonary

The skin lesions of congenital self-healing reticulohistiocytosis may be localized or widely disseminated. Although a solitary lesion or a limited number of lesions is more common, disseminated crusted papules of congenital self-healing reticulohistiocytosis have been reported. [36]