Dr. Yogesh Jain from Ganiyari, Bilaspur in Chhattisgarh, central India requests your help with this infant.
The first two pics are of a 22 day old newborn girl who started
developing erythematous lesions on the face, on arms and the abdomen at
the age of 15 days and now has it for 7 days. After initial erythema,
it darkens and becomes scald-like, as seen below. No blisters .
No nail involvement . No feeding problem. No problem with hair.
Sometimes these lesions get a little bit of pus, but not at this moment. The parents are non-consanguineous.
Her elder sib, a girl, also developed this at the
age of 15 days, mainly on the face. Now at 7 years, she has
hyperpigmented lesions on the face. Otherwise normal.
A first cousin also had similar lesions.
What is this?
Clinical Images of proband, her sister and cousin.
 |
| Heals without ectropion |
Diagnosis: This may be a unique variant of Self-Healing Collodion Baby with limited expression.
Discussion: It's hard to explain this as anything other than an autosomal recessive disorder since none of the parents are affected (need to confirm by history). Reference 3. is available as a full text. I would imagine that cool compresses with clean water and an emollient with a petrolatum base for a few weeks may speed and aid healing. We will try to get some opinions from pediatric dermatologists.
References:
1. Autosomal Recessive
Congenital Ichthyosis.
[Article in English, Spanish]
Rodríguez-Pazos L, Ginarte M,
Vega A, Toribio J.
Actas Dermosifiliogr. 2012
Jul 13. [Epub ahead of print]
Departamento de Dermatología,
Complejo Hospitalario Universitario, Facultad de Medicina, Santiago de
Compostela, España.
Abstract: The term autosomal
recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of
keratinization classified as nonsyndromic forms of ichthyosis. This group was
traditionally divided into lamellar ichthyosis (LI) and congenital
ichthyosiform erythroderma (CIE) but today it also includes harlequin
ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and
bathing suit ichthyosis. The combined prevalence of LI and CIE has been
estimated at 1 case per 138 000 to 300 000 population. In some countries or
regions, such as Norway and the coast of Galicia, the prevalence may be higher
due to founder effects. ARCI is genetically highly heterogeneous and has been
associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and
ABCA12. In this article, we review the current knowledge on ARCI, with a focus
on clinical, histological, ultrastructural, genetic, molecular, and
treatment-related aspects.
2. Acral self-healing collodion
baby: report of a new clinical phenotype caused by a novel TGM1 mutation.Mazereeuw-Hautier
J, Aufenvenne K, Deraison C, Ahvazi B, Oji V, Traupe H, Hovnanian A. Br J Dermatol. 2009 Aug;161(2):456-63.
Department of Dermatology,
CHU Purpan, Toulouse 31024, France. mazereeuw-hautier.j@chu-toulouse.fr
Abstract: A minority of collodion babies, called
'self-healing collodion babies', heal spontaneously. We describe a novel
clinical phenotype of acral self-healing collodion baby caused by a new TGM1
mutation. The proband, born to healthy parents, presented at birth as a
collodion baby strictly localized to the extremities. The skin condition
returned to normal at the age of 3 weeks. The older sister was born as a
generalized collodion baby; the condition then developed into lamellar
ichthyosis. Molecular analysis of TGM1 revealed three novel mutations in the
family. The proband was compound heterozygous for the p.Val359Met and
p.Arg396His mutations, whereas the older sister was compound heterozygous for
p.Arg396His and a deletion mutation c.1922_1926+2delGGCCTGT. Structural
modelling of the p.Val359Met mutation suggested a minor disruption of the
protein structure, whereas a modification of protein-protein interaction was
predicted for p.Arg396His. These predictions corroborated the analysis of
recombinant transglutaminase (TGase)-1 proteins carrying the p.Val359Met and
p.Arg396His mutations. Both showed decreased levels of protein expression:
p.Val359Met displayed residual activity (12.8%), while p.Arg396His caused a
dramatic loss of activity (3.3%). These observations demonstrate for the first
time that TGM1 mutations can be associated with acral self-healing collodion
baby, and expand the clinical spectrum of TGase-1 deficiency.
2. Genotypic and clinical
spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1
mutations in Scandinavian patients. Full
Text
J Invest Dermatol. 2010
Feb;130(2):438-43. Vahlquist A, et. al.
Source
Department of Medical
Sciences, Uppsala University, Uppsala, Sweden.
Abstract: Infants born with
autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a
collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis
upon shedding. However, some babies show a nearly normal underlying skin after
several weeks, a phenotype called "self-healing collodion baby"
(SHCB). Mutations in two genes, TGM1 and ALOX12B, have previously been
implicated in the etiology of SHCB, but the full genotypic spectrum remains to
be determined. DNA sequencing in 11 Swedish and 4 Danish SHCB patients showed
ALOX12B mutations in eight cases, ALOXE3 mutations in three cases, and TGM1
mutations in one case. In three patients, we could not find mutations in any of
the known ARCI genes. In all cases, a spontaneous shedding of the collodion
membrane occurred 2-4 weeks after birth. When re-examined at 2-37 years of age,
the patients showed skin xerosis, a mild or focal scaling, palmar
hyperlinearity with keratoderma, and a frequent appearance of red cheeks and
anhidrosis. Thus, we propose replacing SHCB with the term "self-improving
collodion ichthyosis" (SICI). In conclusion, ALOX12B mutations are the
leading cause of SICI in Scandinavia, followed by ALOXE3 mutations, which have
not been previously associated with this variant of ARCI.
