Poikiloderma (overview) L81.89

Poikiloderma (poikilos = mottled, marbled) refers to clinico-morphologically defined, etiologically distinct, congenital or acquired, variegated clinical pictures with circumscritic or diffuse atrophies, small-spot to reticular hyper- and depigmentation, telangiectasias, and erythema. Poikiloderma can occur in genetic, inflammatory, and neoplastic disorders.

The term "poikiloderma" also includes clinical pictures which can be counted among the so-called pre-aging syndromes.

According to origin or association with syndromes one distinguishes:

Congenital (primary) poikiloderma (classification in a narrower sense, poikiloderma as a dermatological-clinical signature is indicative of an underlying polyorganic syndrome).

• Rothmund-Thomson syndrome (mutation in the RECQL4 gene) (Former distinction between Thomson syndrome and Rothmund syndrome /mutation in the RECQL4 gene)
• Baller-Gerold syndrome (mutation in the RECQL4 gene - see also Rapadilino syndrome
• Dyskeratosis congenita (Zinsser)
• Poikiloderma, congenital with warty hyperkeratosis (Dowling)
• Kindler syndrome (poikiloderma, congenital with blistering; Marghescu-Braun-Falco syndrome; Brain syndrome)
• Dysplasia, congenital ectodermal with cataract.

Poikiloderma in the context of other congenital syndromes:

• Progeria adultorum (Werner syndrome).
• Hartnup syndrome (metabolic disorder)
• Goltz-Gorlin syndrome (dysplasia syndrome)
• Bloom syndrome
• Amyloidosis, familial poikilodermic
• Incontinentia pigmenti, Bloch-Sulzberger type
• Clericuzio-type poikiloderma with neutropenia (mutation in C16orf57)

Symptomatic (secondary) poikiloderma (in the context of chronic inflammatory or neoplastic underlying diseases):

• Dermatomyositis
• Systemic scleroderma
• Systemic lupus erythematosus
• Parakeratosis variegata
• Mycosis fungoides
• Lichen planus
• Acrodermatitis chronica atrophicans
• Urticaria pigmentosa
• Riehl's melanosis
• Poikiloderma, actinic
• Poikiloderma, thermal.
• Facies ethylica
• Chronic graft-versus-host reaction

Due to the various causes, the histology of poikiloderma can be very variable. Common to all forms is an atrophic epidermis with striated rectal ridges, mild hyperkeratosis, pigment incontinence with melanophages in the papillary body and telangiectasia. Occasionally, vacuolization of the junctional zone with lymphocytes and dyskeratosis is detectable.

1. Vogl A et al (2005) Skin and alcohol. J Dtsch Dermatol Ges 3: 788-790