Colloidmilium juveniles L72.8

Woolridge and Frerichs 1960

Very rare, probably autosomal recessive inherited disease, which can be pathogenetically distinguished from the adult form of colloidal milium. In this case, there is a focal deposition of colloid as a degradation product of keratinocytes (in contrast to the adult form of colloid milium).

Very rare, < 100 cases known in the world literature; m:f=1:1;

Unknown; familial occurrence is described several times. In contrast to the adult form, the juvenile colloidalmilium is a deposited "keratin colloid" in which gap junctions and desmosomes have been detected by electron microscopy.

Manifestation prepubertal; beginning of the first changes in the 6th-7th LJ

Light-exposed areas of the face (cheeks, perioral, periocular)

Gradual development of UV-triggered, symptom-free, soft, translucent, yellowish papules and plaques. On pressure, gelatinous material can be expressed from the lesions after incision.

S.u. Colloidalmilium

S.u. Colloidalmilium

A 10-year-old patient presented with facial lesions consisting of multiple small (0.2-0.5 cm), translucent papules with an orange-yellow hue that were occasionally hemorrhagic and located over the child's nose, cheeks, and upper lip. The lesions first appeared three years ago and worsened during the summer months, slowly progressing over the years. The family history was unremarkable, there were no similar cases among the family members. Facial angiofibromas associated with tuberous sclerosis were clinically suspected and as there were no other clinical features required for this diagnosis, a skin biopsy was considered.

Skin biopsy (upper lip): Enlarged dermal papillae protruding above the skin surface . These altered papillary structures were filled with an amorphous, eosinophilic, acellular material, including some clefts and dilated capillaries with infiltrated walls. The overlying epidermis was thinned and contained numerous apoptotic keratinocytes and conspicuous cytoid bodies, some of which appeared confluent, resulting in colloidal masses that intermingled with the papillary dermal deposits. The dermal deposits were in direct contact with the overlying epidermis and pressed against it without the presence of a border zone. The deposits were PAS-positive and Congo red-negative. Immunohistochemical staining for the high molecular weight cytokeratins AE1/AE3, CK5/6 and 34betaE12 showed patchy positivity within the colloid masses.

After the final diagnosis, no other significant findings were noted on further clinical examination. The patient was given recommendations and advice on sun protection measures, a broad spectrum sunscreen and a vitamin C supplement of 250 mg per day. At one month follow-up, the evolution was slightly positive, with a slight improvement of the pre-existing small lesions and the absence of new lesions. CO2 laser treatment was rejected (Voicu C et al. 2019)

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2. Chowdhury MM et al. (2000) Juvenile colloid milium associated with ligneous conjunctivitis: report of a case and review of the literature. Clin Exp Dermatol 25:138-140
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5. Oskay T et al. (2003) Juvenile colloid milium associated with conjunctival and gingival involvement. J Am Acad Dermatol 49:1185-1188
6. Schuster V et al. (2006) Juvenile colloid milium and ligneous conjunctivitis are caused by severe hypoplasminogenemia--no evidence for causal relationship to non-Hodgkin's lymphoma. J Eur Acad Dermatol Venereol 20:1368.

7. Voicu C et al. (2019) Juvenile Colloid Milium: Case Report and Literature Review. Maedica (Bucur). 14:173-178.

8. Woolridge WE et al (1960) Amyloidosis. A new clinical type. Arch Dermatol Syph 82: 230-234