Self-Healing Collodion Baby: Evidence for Autosomal Recessive Inheritance

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  • Pediatric Dermatology Vol. 9 No. 2 95-97

    Self-Healing Collodion Baby: Evidence for Autosomal Recessive Inheritance

    Edgar Frenk, M.D., and Francois de Techtermann, M.D.*

    Department of D e r ~ a t o ~ o g y , Univers i~ Hospital, Lausanne, Switzerland, and V e v e y , Switzerland

    ~

    Abstract: Five s ~ n t a n ~ u s l y healing collodion babies were recorded in a large Swiss kindred. They all had consanguineous parents. Their dis- tribution in the family indicates autosomal recessive inheritance. At birth they had the typical features of collodion babies. The coilodion-like mem- brane was shed within the first month, leaving a slightly scaly skin for a few weeks. Thereafter the skin remained normal without any evidence of a disorder of cornification.

    The term collodion baby designates a rare clini- cal entity of the newborn characterized by a collo- dion membranelike modification of the skin, usually accompanied by an ectropion of the eyelids and lips. This syndrome is usually the initial manifesta- tion of an inborn error of cornification. According to two reviews by Larrtgue et a1 (1,2), the most fre- quent outcome is autosomal recessive congenital ichthyosis, which accounts for about 60% of all cases. Other disorders of cornification that can be- gin initially as collodion baby are autosomal domi- nant ichthyosis, Sjogren-Larsson syndrome, ich- thyosis linearis circumflexa, Conradi syndrome, and trichothiodystrophy . Shedding of the collodion skin without any further disorder of cornification was observed in 5% to 6% of all patients.

    The self-healing variant of collodion baby has been known for a long time. In 1933 Cockayne (3) reported several cases; however, he admitted not always being able to separate them from mild forms of recessive congenital ichthyosis. The cases pub- lished during the last 20 years are summarized in Table 1. The etiology of the self-healing collodion baby is not yet clear; in a few cases there was con- sanguinity in the family. We report a kindred with

    five self-healing collodion babies, indicative of au- tosomal recessive inheritance of this disorder.

    CASE REPORTS All observed collodion babies were members of a large kindred from the central part of Switzerland. Three ( W l , 3, 4) were examined by the authors. The parents of VIA provided information to identify two additional individuals with the same skin con- dition at birth and to establish the family tree over six generations (Fig. 1). All affected individuals, three girls and two boys, had consanguineous par- ents. Our data indicate an autosomal recessive in- heritance.

    Patient VIA

    This boy was a typical collodion baby when he was born in 1979. After the collodion membrane shed during the first month of life, his skin became slightly scaly and cleared completely by the end of the third month. Skin biopsies were performed on days I and 15; the results of light and electron mi- croscopy are published elsewhere (5). When the child was examined at age 11 years, his skin was normal without any evidence of scaling.

    Address correspondence to Edgar Frenk, M.D., Department of Dermatology, Centre hospitalier universitaire vaudois, CH- 101 1 Lausanne, Switzerland.

    95

  • 96 Pediatric Dermatology Vol. 9 No. 2 June 1992

    TABLE 1. Self-Healing Collodion Babies Withoidt Persistent Associated Disease Reported Over the Past 20 Years

    Reference Reed et al, 1972 (4)

    Larrkgue et al, 1976 ( I ) Frenk, 1980 ( 5 ) Larregue er al, 1986 (2)

    ~-

    Arlette, 1987 (6) Frenk (new patients,

    same family as ref. 5 ) -- ______

    No. of Pts.

    1 1 1 1

    1 1

    Sex Skin Healing Time (wks) Consanguinity

    Associated Disease; Neonatal Complications

    F M F M F F F F F M

    6 4 4 8

    } 3 2 1

    2 8 6

    ? 'l

    Oral candidiasis -

    - Cutaneous infection Anemia

    Prematurity -

    I VI '* '.

    Figure 1. Swiss kindred with five self-healing collo- dion babies. 0 affected individuals; 0 (> theoretical carriers.

    Patient VI13

    This girl was a typical collodion baby at birth in 1986 (Fig. 2). At age 15 days the collodion mem- brane peeled off in large lamellae (Fig. 3). By age 2 months the skin was normal. A skin biopsy taken from the arm on day 2 showed the same histology as that of patient Vll l . The stratum corneum was com- pact and thickened. The epidermis was normal, and there was no increase in mitotic figures (Fig. 4). Consent for a second biopsy at age 15 days was not obtained.

    Patient VI14

    This boy, brother of patient VII3, was born in 1989. At birth he had skin changes comparable with those observed in his sister, The ectropion of the eyelids

    Figure 2. Clinical aspect of patient VV3, on day 2 after birth, with typical collodion-like membrane.

    was particularly pronounced. The collodion mem- brane gradually disappeared during the first 4 to 6 weeks and the skin became entirely normal.

    DISCUSSION

    In 1972 Reed et a1 (4) outlined a clinical syndrome that they called lamellar ichthyosis of the newborn, according to a designation already used by Cock- ayne ( 3 ) . Babies born with this syndrome were com- pletely covered at birth with a collodion-lik~ mem- brane that was gradually shed within the first weeks

    or months of life; later the skin remained free of ich- thyosis. The term lamellar ichthyosis of the new- born is somewhat confusing, as this syndrome is un- related to lamellar ichthyosis, one of the major clinical forms of autosomal recessive congenital ichthyosis (7,8).

    The term collodion baby has been generally ac- cepted for designating a newborn covered by a collodion-like membrane. It is now well recognized that this clinical syndrome can be caused by several different disorders of cornification, the heteroge-

  • Frenk and de Techtermann: Self-Healing Collodion Baby 97

    Figure 3. Lamellar shedding of the collodion-like membrane on day 15 (baby V113).

    Figure 4. Biopsy from the right arm of baby V1/3 on day 2 showed orthokeratotic, compact lamellar hyperkera- tosis on an otherwise normal-appearing epidermis; the dermis is normal. (Hematoxylin & eosin; magnifi- cation 200x.)

    neous group of autosomal recessive congenital ich- thyoses being the most frequently observed (1,2). We therefore believe that it is more appropriate to designate collodion babies who do not evolve into ichthyosis as self-healing collodion babies.

    Analysis of the literature is hampered by the lack of a clear nomenclature accepted worldwide, a dif- ficulty already evident in the reviews by Cockayne (3) and Reed et a1 (4). In the last 20 years we could find only 10 cases of self-healing collodion babies without persistent associated disease, including our patients. Histologic data from the neonatal period are available from only two of our patients. The two-week biopsy appeared to be particularly infor- mative with regard to prognosis (5). However, the histologic differential diagnosis between collodion

    babies healing spontaneously and those evolving into very mild forms of recessive ichthyosis remains difficult (9,lO).

    Three additional collodion babies with a sponta- neously resolving skin condition, who were also re- ported within the last 20 years, had severe systemic disease. Two had cerebral Gaucher disease leading to early death (11). Another boy, case 3 in Reeds report (41, had a complex clinical syndrome with bi- lateral cataracts and iridocyclitis, and central ner- vous system dysfunction; at age 9 months he was found apneic in his crib and died.

    The reported Swiss kindred clearly indicates au- tosomal recessive transmission of a skin defect pro- ducing self-healing collodion babies without other associated disease. This is strong evidence for the existence of a distinct, prenatally expressed disor- der of corni~cation, unrelated to hitherto known ichthyotic syndromes resulting in collodion babies at birth.

    REFERENCES

    1. Larr2gue M, Gharbi R, Daniel J, Le Marec Y, Civatte J. Le b6b6 collodion. Evolution a propos de 29 cas. Ann Dermatol Syph 1976;103:31-56.

    2. Larregue M, Ottavy N, Bressieux JM, Lorette J. Bebe collodion, trente-deux nouvelles observations. Ann Dermatol Venereol 1986; 113:773-785.

    3. Cockayne EA. Inherited a b n o ~ a l i ~ i e s of the skin and its appendages. London: Oxford University Press, 1933.

    4. Reed WB, Hernick RP, Harville D, Porter PS, Co- nant M. Lamellar ichthyosis of the newborn. A dis- tinct clinical entity: its comparison to the other ich- thyosiform erythrodermas. Arch Dermatol 1972; 105: 395-399.

    5. Frenk E. A spontaneously healing collodion baby: a light and electron microscopical study. Acta Derm Venereol (Stockh) 1980;61: 168-171.

    6. Arlette JP. Collodion membrane in the premature in- fant. Pediatr Dermatol 1987;4:269-270.

    7. Bernhardt M, Baden H. Report of a family with an unusual expression of recessive ichthyosis. Review of 42 cases. Arch Dermatol 1986;122:42&133.

    8. Williams ML, Elias PM. Genetically transmitted, generalized disorders of cornification. Dermatol Clin

    9. De Dobbeleer G, Heenen M, Song M, Achten G. Col- lodion baby skin. Ultrastructural and autoradio- graphic study. J Cutan Pathol 1982;9: 196-202.

    10. Langer K, Konrad K, Weninger M, WOE K. Kollo- diumbaby mit Uebergang in milde lamellare ichthy- ose. Hautarzt 1991;42:34-38.

    11. Lui K, Commens C, Choong R, Jaworski R. Collo- dion babies with Gauchers disease. Arch Dis Child 1988;63:854-856.

    19873: 155-178.

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